| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
| Gombo Syndrome |
|
Microphthalmia, Radial deviation of finger, Microcephaly, Brachydactyly, Clinodactyly |
OMIM:233270 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor |
ORPHA:46532 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... |
OMIM:237800 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Immunodeficiency 69 |
|
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... |
OMIM:618963 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... |
ORPHA:93403 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... |
OMIM:174500 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... |
ORPHA:75564 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume |
OMIM:188000 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... |
OMIM:615631 |
| Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... |
OMIM:186000 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Thrombocytosis, Asplenia |
OMIM:271400 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia |
OMIM:613977 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... |
ORPHA:86841 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis |
OMIM:230450 |
| Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... |
ORPHA:766 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly |
OMIM:224100 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... |
OMIM:615285 |
| Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
| Glutamate-Cysteine Ligase Deficiency |
|
Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Spherocytosis, Type 5 |
|
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... |
OMIM:612690 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Macrocephaly, Megalencephaly, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Syndacty... |
OMIM:615938 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... |
OMIM:616689 |
| Syndactyly, Type Iv |
|
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... |
OMIM:186200 |
| Syndactyly Type 1 |
|
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... |
ORPHA:93402 |
| Polycythemia Vera |
|
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... |
OMIM:263300 |
| Thrombocythemia 1 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... |
OMIM:187950 |
| Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... |
OMIM:314050 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Immunodeficiency 27A |
|
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp... |
OMIM:209950 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
| Syndactyly, Type Iii |
|
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... |
OMIM:186100 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Sterile abscess, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia |
OMIM:604416 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia |
OMIM:620534 |
| Triphalangeal Thumb With Polysyndactyly |
|
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... |
OMIM:190605 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly... |
OMIM:603552 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Refractory Anemia |
|
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... |
ORPHA:98826 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... |
OMIM:614470 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Anemia, Leukemia, Neutropenia |
OMIM:614082 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger symphalangism, Macrocephaly, Reduced proximal interphalangeal joint space, Short distal ph... |
ORPHA:3246 |
| Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
| Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... |
ORPHA:3203 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... |
ORPHA:521 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Microcephaly, Syndactyly |
OMIM:271109 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly |
OMIM:234280 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... |
OMIM:235700 |
| Essential Thrombocythemia |
|
Acute leukemia, Leukocytosis, Abnormality of thrombocytes, Abnormal platelet morphology, Splenome... |
ORPHA:3318 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Primary Myelofibrosis |
|
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ... |
ORPHA:824 |
| Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Macrocephaly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped met... |
OMIM:174200 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... |
OMIM:617780 |
| Harderoporphyria |
|
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia |
OMIM:618892 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase activity |
OMIM:615909 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
| Spherocytosis, Type 4 |
|
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:612653 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis |
OMIM:619281 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... |
OMIM:133180 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... |
OMIM:603902 |
| Spherocytosis, Type 2 |
|
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia |
OMIM:616649 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... |
OMIM:266200 |
| Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... |
ORPHA:846 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
| Spherocytosis, Type 1 |
|
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:182900 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... |
OMIM:224120 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... |
ORPHA:3269 |
| Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... |
OMIM:113100 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Ataxia-Pancytopenia Syndrome |
|
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... |
OMIM:159550 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Dehydrated Hereditary Stomatocytosis |
|
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... |
ORPHA:3202 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... |
OMIM:300908 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... |
ORPHA:1891 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Abnormal B cell morphology |
OMIM:616911 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis |
OMIM:300653 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia, Pallor |
ORPHA:517 |
| Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
| Immunodeficiency 53 |
|
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:617585 |
| Camptosynpolydactyly, Complex |
|
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly |
OMIM:607539 |
| Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Microcephaly, Toe sy... |
ORPHA:64754 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo... |
OMIM:613673 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenylate kinase activity, Hemolytic anemia |
OMIM:612631 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p... |
OMIM:601399 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
OMIM:131400 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... |
ORPHA:444463 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervic... |
OMIM:614034 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... |
OMIM:301083 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Microphthalmia/Coloboma 5 |
|
Bilateral microphthalmos, Microphthalmia, Holoprosencephaly, Anophthalmia |
OMIM:611638 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microcephaly, Microphthalmia |
OMIM:616335 |
| Cernunnos-Xlf Deficiency |
|
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia |
ORPHA:169079 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume |
OMIM:205950 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Overhydrated Hereditary Stomatocytosis |
|
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... |
OMIM:185000 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... |
OMIM:194380 |
| Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly |
OMIM:608898 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:611590 |
| Diamond-Blackfan Anemia 4 |
|
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia |
OMIM:612527 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
| Breath-Holding Spells |
|
Pallor, Iron deficiency anemia |
OMIM:607578 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:229050 |
| Polydactyly, Postaxial, Type A5 |
|
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly |
OMIM:263450 |
| Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis |
ORPHA:54057 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia |
ORPHA:494444 |
| Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Brachydactyly, Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... |
OMIM:112600 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... |
OMIM:616216 |
| X-Linked Sideroblastic Anemia |
|
Elevated circulating hepatic transaminase concentration, Pallor, Anemia, Splenomegaly |
ORPHA:75563 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly, Microphthalmia |
OMIM:613094 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... |
OMIM:615234 |
| Brachydactyly Type A7 |
|
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... |
ORPHA:93397 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
| Sickle Cell Anemia |
|
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... |
ORPHA:232 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Microcephaly, ... |
OMIM:613885 |
| Jawad Syndrome |
|
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... |
OMIM:251255 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... |
OMIM:619220 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Lymphadenopathy, B lymphocytopenia, Abscess, Intermittent thrombocytopenia, Splenomegaly, Abnorma... |
OMIM:150550 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Microcephaly, 2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Acropectorovertebral Dysplasia |
|
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Spina bifi... |
ORPHA:957 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Anemia, Sideroblastic, 1 |
|
Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production,... |
OMIM:300751 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:620481 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:79312 |
| Immunodeficiency 21 |
|
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... |
OMIM:614172 |
| Hereditary Spherocytosis |
|
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... |
ORPHA:822 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia |
OMIM:153550 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Bone Marrow Failure Syndrome 2 |
|
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
| Mmep Syndrome |
|
Microcephaly, Microphthalmia, Triphalangeal thumb, Split foot |
ORPHA:3434 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia |
OMIM:183350 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Syndactyly Type 5 |
|
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... |
ORPHA:93406 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:598500 |
| Syndactyly Type 3 |
|
Finger syndactyly, Camptodactyly of finger, Short toe |
ORPHA:93404 |
| Congenital Varicella Syndrome |
|
Microcephaly, Microphthalmia, Cerebral cortical atrophy, Micromelia |
ORPHA:291 |
| Beta-Thalassemia |
|
Skin ulcer, Anemia, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemogl... |
ORPHA:848 |
| Sitosterolemia 1 |
|
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... |
OMIM:210250 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... |
ORPHA:35858 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia |
OMIM:618852 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Neutropenia, Absent circulating B cells |
OMIM:613501 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Microcephaly, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of ... |
OMIM:600384 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:617970 |
| Immunodeficiency 52 |
|
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... |
OMIM:617514 |
| Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617243 |
| Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... |
OMIM:615387 |
| Wahab Syndrome |
|
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... |
OMIM:615170 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... |
OMIM:300835 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Microphthalmia, Microcephaly, Agenesis of corpus callosum, Cerebellar hypopla... |
OMIM:616570 |
| Microphthalmia/Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Hereditary Elliptocytosis |
|
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... |
ORPHA:288 |
| Oculocerebrocutaneous Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Dandy-Walker malformation, Orbit... |
OMIM:164180 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... |
OMIM:618849 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Rh Deficiency Syndrome |
|
Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatospl... |
ORPHA:71275 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
| Hemochromatosis, Type 3 |
|
Cirrhosis, Neutropenia, Anemia, Lymphopenia |
OMIM:604250 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
| Elliptocytosis 2 |
|
Elliptocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... |
ORPHA:93405 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count |
ORPHA:100024 |
| Spastic Paraplegia And Evans Syndrome |
|
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia |
OMIM:601608 |
| Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Ascites, Thrombocytosis |
OMIM:226300 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
| Acalvaria |
|
Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Holoprosencephaly, Aplasia/Hypoplasia of... |
ORPHA:945 |
| Acropectorovertebral Dysplasia |
|
Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th... |
OMIM:102510 |
| Transcobalamin Deficiency |
|
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia |
ORPHA:859 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... |
OMIM:618167 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis |
ORPHA:71289 |
| Acute Erythroid Leukemia |
|
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia |
ORPHA:318 |
| Elliptocytosis 1 |
|
Jaundice, Elliptocytosis, Splenomegaly, Pallor, Hemolytic anemia |
OMIM:611804 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ... |
OMIM:619652 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... |
OMIM:301078 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin, Pallor |
ORPHA:163596 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Hypoplasi... |
OMIM:615771 |
| Glycogen Storage Disease Vii |
|
Jaundice, Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentrati... |
OMIM:232800 |
| Erythrocytosis, Familial, 8 |
|
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... |
OMIM:222800 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Acute l... |
ORPHA:158057 |
| Ulnar Hemimelia |
|
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... |
ORPHA:93320 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... |
OMIM:312863 |
| Frontal Encephalocele |
|
Macrocephaly, Encephalocele, Hydrocephalus, Cerebral calcification, Spina bifida, Aplasia/Hypopla... |
ORPHA:1931 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism |
OMIM:610539 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly |
ORPHA:100025 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Camptodactyly, Spina bifida, Dermatoglyphic ridges abnormal, Small hypothenar eminence, Small the... |
OMIM:211960 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis |
OMIM:266120 |
| Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
| Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
| Ectrodactyly-Polydactyly Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... |
ORPHA:1892 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... |
OMIM:308240 |
| Santos Syndrome |
|
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... |
OMIM:613005 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Idiopathic Aplastic Anemia |
|
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
ORPHA:88 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
| Immunodeficiency 76 |
|
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia |
OMIM:619164 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... |
OMIM:609432 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... |
ORPHA:157801 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... |
OMIM:605289 |
| Aggressive Systemic Mastocytosis |
|
Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Pancytopenia, Leukocytosis, As... |
ORPHA:98850 |
| Aplasia Cutis Congenita |
|
Skin ulcer, Finger syndactyly, Toe syndactyly, Spinal dysraphism, Erythema |
ORPHA:1114 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... |
OMIM:619924 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Neural tube defect, Anophthalmia |
OMIM:600776 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Thrombocytopenia, Anemia |
OMIM:616176 |
| Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... |
OMIM:187800 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Inferior cerebellar vermis hypoplasia, Proximal placement of thumb, Anophthalmia,... |
ORPHA:139471 |
| Liebenberg Syndrome |
|
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... |
OMIM:186550 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia, Ascites |
ORPHA:295 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb |
ORPHA:2935 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Hepatomegaly, Splenomegaly |
OMIM:606445 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia |
ORPHA:238459 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl... |
OMIM:615934 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... |
OMIM:601859 |
| Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia |
OMIM:615010 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands |
OMIM:185900 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Abnormality of thrombocytes, Anemia, Asplenia |
ORPHA:3204 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy |
OMIM:618987 |
| Microphthalmia With Limb Anomalies |
|
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Microphthalmia, Sandal g... |
OMIM:206920 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli... |
OMIM:610140 |
| Humero-Radial Synostosis |
|
Tarsal synostosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Meningocele, Microc... |
ORPHA:3265 |
| Letterer-Siwe Disease |
|
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia |
OMIM:246400 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly |
OMIM:615085 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly |
OMIM:613101 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Aregenerative Anemia |
|
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... |
ORPHA:101096 |
| Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
| Griscelli Syndrome Type 2 |
|
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia |
ORPHA:79477 |
| Leishmaniasis |
|
Skin ulcer, Anemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Pancyt... |
ORPHA:507 |
| Specific Granule Deficiency 2 |
|
Thrombocytopenia, Absent neutrophil specific granules, Anemia, Neutropenia |
OMIM:617475 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi... |
OMIM:304790 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... |
OMIM:212050 |
| Microcephaly-Cardiomyopathy |
|
Microcephaly, Dilated cardiomyopathy, Clinodactyly of the 5th finger, Sandal gap |
OMIM:251220 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Neutropenia |
OMIM:613502 |
| Myelofibrosis |
|
Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Pallor, Extra... |
OMIM:254450 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... |
ORPHA:488232 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... |
OMIM:615615 |
| Fibular Hemimelia |
|
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... |
ORPHA:93323 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... |
OMIM:616860 |
| Immunodeficiency 62 |
|
B lymphocytopenia, Autoimmune thrombocytopenia, Increased proportion of transitional B cells, Dec... |
OMIM:618459 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... |
OMIM:615297 |
| Kasabach-Merritt Phenomenon |
|
Hepatic hemangioma, Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Th... |
ORPHA:2330 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Radioulnar synostosis, Abnormali... |
ORPHA:3268 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormality ... |
ORPHA:398124 |
| Immunodeficiency 112 |
|
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... |
OMIM:620449 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, ... |
ORPHA:1528 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly, Occipital encephalocele, Agenesis of cerebellar vermis |
OMIM:213010 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:613561 |
| Greig Cephalopolysyndactyly Syndrome |
|
Macrocephaly, Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad ha... |
ORPHA:380 |
| 15Q11Q13 Microduplication Syndrome |
|
Finger syndactyly, Macrocephaly, Clinodactyly of the 5th finger |
ORPHA:238446 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... |
ORPHA:231154 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... |
OMIM:615513 |
| Malaria |
|
Thrombocytopenia, Anemia |
ORPHA:673 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Abnormal metacarpal morphology, Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the t... |
ORPHA:1113 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly |
ORPHA:294975 |
| Diamond-Blackfan Anemia 12 |
|
Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti... |
OMIM:615550 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Abnormality of thrombocytes, ... |
OMIM:612840 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Bardet-Biedl Syndrome 5 |
|
Polydactyly, Syndactyly, Brachydactyly |
OMIM:615983 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro... |
ORPHA:158061 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
| Cold Agglutinin Disease |
|
Pallor, Hepatomegaly, Splenomegaly, Hemolytic anemia |
ORPHA:56425 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:617441 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Microphthalmia, Syndactyly, Brachydactyly |
OMIM:610023 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Supraventricular tachycardia, Abnormal capillary physiology, Abnormality o... |
ORPHA:90064 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly |
OMIM:225300 |
| Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi... |
OMIM:619375 |
| Syndactyly, Type V |
|
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... |
OMIM:186300 |
| Familial Thrombocytosis |
|
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia |
ORPHA:71493 |
| Polycythemia Vera |
|
Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth... |
ORPHA:729 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... |
OMIM:610713 |
| Diamond-Blackfan Anemia 5 |
|
Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia |
OMIM:612528 |
| Hemochromatosis, Type 2B |
|
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hepatic fibrosis |
OMIM:613313 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
| Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia |
OMIM:608971 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... |
OMIM:618986 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... |
OMIM:613839 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Jaundice, Reticulocytosis, Prolonged neonatal jaundice, Thrombocytopenia, Microangiopathic hemoly... |
OMIM:274150 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... |
OMIM:183600 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Immunodeficiency 32B |
|
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... |
OMIM:226990 |
| Meckel Syndrome, Type 2 |
|
Polydactyly, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, ... |
OMIM:603194 |
| Joubert Syndrome 22 |
|
Hypoplasia of the corpus callosum, Microphthalmia, 2-3 toe syndactyly, Postaxial hand polydactyly... |
OMIM:615665 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volum... |
ORPHA:98870 |
| Felty Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... |
ORPHA:47612 |
| Thrombocytopenia 7 |
|
Impaired ADP-induced platelet aggregation, Reduced platelet alpha granules, Impaired collagen-ind... |
OMIM:619130 |
| Immunodeficiency 13 |
|
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... |
OMIM:615518 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Anemia |
OMIM:610090 |
| Schnitzler Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly |
ORPHA:37748 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Immunodeficiency, Common Variable, 13 |
|
B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia |
OMIM:616873 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Jaundice, Petechiae, Neutropenia in presence of anti-neutropil antib... |
ORPHA:1959 |
| Meckel Syndrome, Type 4 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydro... |
OMIM:611134 |
| Beta-Thalassemia Intermedia |
|
Decreased liver function, Cirrhosis, Skin ulcer, Jaundice, Hepatomegaly, Cholelithiasis, Anemia o... |
ORPHA:231222 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Anemia |
OMIM:618728 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... |
OMIM:243150 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Umbilical hernia, Neutropenia |
OMIM:614520 |
| Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly, Microphthalmia |
ORPHA:141333 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the l... |
OMIM:611561 |
| Immunodeficiency 48 |
|
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... |
OMIM:269840 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... |
OMIM:133100 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... |
ORPHA:67044 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia |
OMIM:618116 |
| Fanconi Anemia, Complementation Group T |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:616435 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Lisse... |
OMIM:218670 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... |
OMIM:603909 |
| Immunodeficiency 102 |
|
Hepatomegaly, Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, De... |
OMIM:301082 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:618107 |
| Seckel Syndrome 2 |
|
Microphthalmia, Clinodactyly of the 5th finger, Microcephaly, Basal ganglia calcification, Heart ... |
OMIM:606744 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis, Reticulocytosis |
OMIM:235400 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc... |
OMIM:618278 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Hypochromia, Elevated hepatic iron concentration, Decreased mean corpuscular volume, Eryt... |
OMIM:206100 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... |
ORPHA:169154 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Abnormal left ventricular function, Focal cort... |
OMIM:613155 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| X-Linked Agammaglobulinemia |
|
Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Thrombocytopenia, Recurr... |
ORPHA:47 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/hypoplasia of the femur, Bilateral microphthalmos, Prominent protruding coccyx, Hydranenc... |
ORPHA:2839 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia |
OMIM:616871 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... |
OMIM:619846 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| Lissencephaly 8 |
|
Hypoplasia of the corpus callosum, Occipital encephalocele, Microphthalmia, Polymicrogyria, Type ... |
OMIM:617255 |
| Microphthalmia, Syndromic 8 |
|
Microcephaly, Split foot, Microphthalmia, Premature skin wrinkling |
OMIM:601349 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Microphthalmia, Megalencephaly, Cavum septum pellucidum, Hydrocephalus, Polymicrogyr... |
OMIM:602501 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Reticulocyt... |
ORPHA:300298 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity |
OMIM:618660 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Brachydactyly Type B |
|
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... |
ORPHA:93383 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Macrocephaly, Spindle-shaped finger, Genu va... |
ORPHA:166024 |
| Pelger-Huet Anomaly |
|
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Umbilical hernia, Abnor... |
OMIM:169400 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic dyserythropoietic anemia, Macrocytic anemia |
OMIM:619789 |
| Feingold Syndrome Type 2 |
|
Microcephaly, Short middle phalanx of finger, Short thumb, Brachydactyly, Toe syndactyly |
ORPHA:391646 |
| Acute Promyelocytic Leukemia |
|
Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia |
ORPHA:520 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Reticular Dysgenesis |
|
Aplasia/Hypoplasia of the thymus, Abnormality of neutrophils, Anemia, Leukopenia |
ORPHA:33355 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida |
ORPHA:2476 |
| Omenn Syndrome |
|
Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... |
OMIM:603554 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr... |
ORPHA:54251 |
| Interstitial Lung And Liver Disease |
|
Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Hepatic fibrosis, Thrombocytosis, Hepatic steatosis |
OMIM:615486 |
| Hydrolethalus |
|
Microphthalmia, Anencephaly, Anophthalmia, Hydrocephalus, Postaxial hand polydactyly, Micromelia,... |
ORPHA:2189 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Abnormal B cell count, Decreased proportion of class-switched memory B cells |
OMIM:613493 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Agenesis of corpus call... |
OMIM:182230 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, N... |
OMIM:275350 |
| Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... |
OMIM:607594 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia |
OMIM:301110 |
| Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia |
OMIM:618313 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Ascites, Anemia, Splenomegaly |
ORPHA:1046 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Schisis Association |
|
Anencephaly, Encephalocele, Micromelia, Microcephaly, Spina bifida |
ORPHA:63862 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo... |
ORPHA:158048 |
| Autoerythrocyte Sensitization Syndrome |
|
Autoimmune thrombocytopenia, Thrombocytosis, Abnormal erythrocyte morphology, Impaired platelet a... |
ORPHA:324636 |
| Cyclic Neutropenia |
|
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto... |
ORPHA:2686 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... |
OMIM:613011 |
| Congenital Toxoplasmosis |
|
Jaundice, Anemia, Hepatomegaly, Lymphadenopathy, Ascites, Thrombocytopenia, Cardiomegaly |
ORPHA:858 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... |
OMIM:618534 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly, Cirrhosis |
ORPHA:101028 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Generalized lymphadenopathy, Absent circulating B cells, Splenomegaly, Pancytopenia |
OMIM:620282 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hypertension, Bone marr... |
OMIM:615688 |
| Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies |
OMIM:223350 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... |
OMIM:603546 |
| Chediak-Higashi Syndrome |
|
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Leukopenia, Splenomegaly, Impa... |
OMIM:214500 |
| Atransferrinemia |
|
Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
| Brachydactyly Type B2 |
|
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... |
ORPHA:140908 |
| 2Q24 Microdeletion Syndrome |
|
Microphthalmia, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Hand clenchi... |
ORPHA:1617 |
| Bardet-Biedl Syndrome 22 |
|
Microcephaly, Polydactyly, Macrocephaly, Postaxial foot polydactyly |
OMIM:617119 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia |
OMIM:247800 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... |
OMIM:619126 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Iron deficiency anemia, Thrombocytosis, Lymphocytosis, Decreased proportion of ... |
OMIM:301074 |
| Babesiosis |
|
Jaundice, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia |
ORPHA:108 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger |
OMIM:313350 |
| Poems Syndrome |
|
Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Polycythemia, Splenomegaly, Thrombocytosis |
ORPHA:2905 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Majeed Syndrome |
|
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... |
OMIM:609628 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia |
ORPHA:2688 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Cubitus valgus, Scapular winging, Spina bifida, Microcephaly, Camptodactyly of finger, Short toe,... |
ORPHA:1327 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Specific Granule Deficiency 1 |
|
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... |
OMIM:245480 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... |
OMIM:619271 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia |
OMIM:618398 |
| Propionic Acidemia |
|
Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:606054 |
| Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:231900 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Medi... |
OMIM:619802 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Absent circulating B cells |
OMIM:613500 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebral atrophy, Microphthalmia, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern,... |
OMIM:616171 |
| Czeizel-Losonci Syndrome |
|
Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar crease, Ectrodact... |
ORPHA:2437 |
| Isolated Agammaglobulinemia |
|
Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lymphocyte morp... |
ORPHA:229717 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly |
OMIM:616890 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly, Microphthalmia |
OMIM:614830 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Neutropenia |
OMIM:618752 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... |
OMIM:619824 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... |
OMIM:300853 |
| Acropectoral Syndrome |
|
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx |
OMIM:605967 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... |
OMIM:616278 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia |
OMIM:614514 |
| Thrombocytopenia 9 |
|
Thrombocytopenia, Abnormal platelet aggregation |
OMIM:620478 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thr... |
ORPHA:540 |
| Synpolydactyly 2 |
|
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... |
OMIM:608180 |
| Cogan Syndrome |
|
Thrombocytosis, Anemia, Leukocytosis |
ORPHA:1467 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... |
OMIM:308230 |
| Bardet-Biedl Syndrome 7 |
|
Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly |
OMIM:615984 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:620296 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... |
ORPHA:100026 |
| Curry-Jones Syndrome |
|
Microphthalmia, Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality of thumb phalanx, A... |
ORPHA:1553 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia |
ORPHA:28 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
| Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy |
OMIM:620514 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia, Pallor |
ORPHA:49827 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia |
ORPHA:51208 |
| Amed Syndrome, Digenic |
|
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia |
OMIM:619151 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... |
OMIM:615193 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... |
OMIM:613470 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Fibrodysplasia Ossificans Progressiva |
|
Anemia |
ORPHA:337 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... |
ORPHA:93409 |
| Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia |
OMIM:615113 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia, Jaundice, Neutropenia |
OMIM:250940 |
| Xk Aprosencephaly Syndrome |
|
Microcephaly, Microphthalmia, Abnormal morphology of the radius |
ORPHA:3469 |
| Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Anemia |
ORPHA:79402 |
| Hartsfield Syndrome |
|
Microphthalmia, Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the rad... |
ORPHA:2117 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... |
OMIM:615559 |
| Congenital Enterovirus Infection |
|
Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Leukopenia, Thrombocytopenia, ... |
ORPHA:292 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Jaundice, Anemia, Hepatomegaly, Acute pancreatitis, Leukocytosis, Leukopenia, Thrombocytosis, Lip... |
ORPHA:20 |
| Immunodeficiency 115 With Autoinflammation |
|
Intestinal lymphangiectasia, Anemia, T lymphocytopenia, Decreased proportion of memory T cells, S... |
OMIM:620632 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Normochromic anemia, Neutropenia |
OMIM:614857 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly |
OMIM:610333 |
| Wolman Disease |
|
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly |
ORPHA:75233 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce... |
OMIM:619705 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio |
OMIM:618495 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... |
OMIM:612714 |
| Cinca Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia |
OMIM:607115 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, Absence of lymph node germinal center, T lymphocytopenia |
ORPHA:277 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia |
ORPHA:2598 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Immunodeficiency 68 |
|
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess |
OMIM:612260 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Macrocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Temtamy Syndrome |
|
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Aplasia/H... |
ORPHA:1777 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel... |
ORPHA:3261 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Thrombocytosis, Leukocytosis, Perianal abscess |
OMIM:618213 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Macrocephaly, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Metaphyseal cupp... |
OMIM:300863 |
| Immunodeficiency 67 |
|
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... |
OMIM:607676 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:611783 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hepatomegaly, Anemia, Ascites |
ORPHA:2123 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor, Splenomegaly |
ORPHA:90037 |
| Frontonasal Dysplasia 1 |
|
Microphthalmia, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Postaxial hand po... |
OMIM:136760 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Macrocephaly at birth, Occipital encephalocele, Microphthalmia, Hydrocephalus, Type II lissencephaly |
ORPHA:324416 |
| Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Carpenter Syndrome |
|
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,... |
ORPHA:65759 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bilateral single transverse palmar creases, Abnormal thumb morphology, Triphalangeal thumb, Proxi... |
ORPHA:1120 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... |
ORPHA:508542 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count |
OMIM:616050 |
| Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Myeloproliferati... |
ORPHA:3260 |
| Femur-Fibula-Ulna Complex |
|
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... |
ORPHA:2019 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microcephaly, Microphthalmia |
OMIM:278780 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso... |
ORPHA:3226 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the thumb, Finger s... |
ORPHA:1908 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad thumb, Syndactyly, Umbilical hernia, Hydrocephalus, Postaxial hand polydactyly, Broad hallu... |
OMIM:175700 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Autoimmune hemolytic anemia, Sclerosing cholangitis, Pancytopenia, Neutropenia in presence of ant... |
ORPHA:572 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Immunodeficiency 114, Folate-Responsive |
|
Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia |
OMIM:620603 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617907 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t... |
ORPHA:370010 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:231000 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Neutropenia, Lymphopenia |
OMIM:614868 |
| Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Iron deficiency anemia, Macrocytic anemia |
OMIM:212750 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... |
OMIM:261000 |
| Senior-Loken Syndrome 4 |
|
Anemia |
OMIM:606996 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Aplastic anemia, Cirrhosis, Anemia, Mediastinal lymphadenopathy, Pancytopenia, Bone marrow hypoce... |
OMIM:614742 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Abnormality of the liver, Neu... |
ORPHA:2169 |
| Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Hepatomegaly |
ORPHA:134 |
| Lesch-Nyhan Syndrome |
|
Anemia |
ORPHA:510 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... |
ORPHA:486 |
| Fountain Syndrome |
|
Macrocephaly, Abnormal metacarpal morphology, Spina bifida occulta, Spina bifida, Large hands, Co... |
ORPHA:3219 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Braddock-Carey Syndrome 2 |
|
Microcephaly, Microphthalmia, Clinodactyly |
OMIM:619981 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ... |
OMIM:225280 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Reduced natural killer cell count, Perianal abscess, T lymphocytopenia |
OMIM:618108 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Anemia |
ORPHA:2325 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:251110 |
| Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Hepatomegaly, Splenomegaly |
OMIM:619462 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Fetal Cytomegalovirus Syndrome |
|
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis |
ORPHA:294 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci... |
ORPHA:64743 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Pancreatitis, Leukocytosis, Reticulocytosis, Thrombocytopenia, Peritonitis, Microangiopathic hemo... |
ORPHA:90038 |
| Immunodeficiency 81 |
|
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Impaired coll... |
OMIM:619374 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Microphthalmia, Cerebral atrophy, Agenesis of corpus callosum |
OMIM:274270 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcephaly, Microphthalmia |
ORPHA:2528 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit |
OMIM:609820 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis |
OMIM:300635 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... |
OMIM:614700 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Neutropenia, Lymphopenia |
OMIM:620443 |
| Meckel Syndrome, Type 11 |
|
Polydactyly, Occipital encephalocele |
OMIM:615397 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... |
OMIM:228930 |
| Sandhoff Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:796 |
| Oslam Syndrome |
|
Anemia |
OMIM:165660 |
| Walker-Warburg Syndrome |
|
Microphthalmia, Abnormal cortical gyration, Macrocephaly, Lissencephaly, Hydrocephalus, Dandy-Wal... |
ORPHA:899 |
| Immunodeficiency, Common Variable, 6 |
|
Autoimmune thrombocytopenia, Abnormal T cell count, Abnormal B cell count |
OMIM:613496 |
| Tafro Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... |
ORPHA:457077 |
| Cofs Syndrome |
|
Microphthalmia, Cerebral calcification, Microcephaly, Cerebral cortical atrophy, Camptodactyly of... |
ORPHA:1466 |
| Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia |
OMIM:124900 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Shwachman-Diamond Syndrome 1 |
|
Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thromboc... |
OMIM:260400 |
| Isolated Split Hand-Split Foot Malformation |
|
Aniridia, Finger syndactyly, Oligodactyly, Split hand, Absent hand |
ORPHA:2440 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
| Infantile Liver Failure Syndrome 1 |
|
Hepatic steatosis, Hepatomegaly, Anemia, Macrocytic anemia |
OMIM:615438 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Cortical dysplasia, Microphthalmia, Toe syndactyly |
ORPHA:261272 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Thrombocytopenia, Leukopenia |
ORPHA:27 |
| Dominant Beta-Thalassemia |
|
Cirrhosis, Skin ulcer, Hypochromic microcytic anemia, Jaundice, Decreased mean corpuscular hemogl... |
ORPHA:231226 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Cirrhosis, Skin ulcer, Hypochromic microcytic anemia, Jaundice, Hepatomegaly... |
ORPHA:231214 |
| Hypomelanosis Of Ito |
|
Cerebral atrophy, Radial deviation of finger, Macrocephaly, Microcephaly, Hand polydactyly, Synda... |
OMIM:300337 |
| Tufted Angioma |
|
Thrombocytopenia, Anemia |
ORPHA:1063 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Sho... |
OMIM:169550 |
| Trisomy 1Q |
|
Macrocephaly, Anophthalmia, Hydrocephalus, Arachnodactyly, Camptodactyly of finger, Toe syndactyl... |
ORPHA:261344 |
| Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:251100 |
| Proximal Symphalangism |
|
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... |
ORPHA:3250 |
| Adams-Oliver Syndrome 3 |
|
Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Microcephaly, Short palm, Short ... |
OMIM:614814 |
| Long Qt Syndrome 8 |
|
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syndactyly, Syncope, Aborted... |
OMIM:618447 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Galactose Epimerase Deficiency |
|
Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Sideroblastic anemia, Hypochromic anemia, Microcytic anemia, Erythroid hyperplasia, Pallor, Pappe... |
OMIM:600462 |
| Tularemia |
|
Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Leukocytosis, Thr... |
ORPHA:3392 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells |
OMIM:618982 |
| Brachydactyly, Type B2 |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... |
OMIM:611377 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, B lymphocytopenia |
OMIM:612692 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Sickle Cell Disease |
|
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... |
OMIM:603903 |
| Microphthalmia/Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran... |
OMIM:618935 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Sandal gap, Pulmonary arterial hypertension, M... |
OMIM:300887 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy |
ORPHA:69077 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Microcephaly, Broad palm, Macrocephaly, Spina bifida |
OMIM:620439 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Deep palmar crease |
OMIM:600251 |
| Ollier Disease |
|
Lymphangioma, Anemia |
ORPHA:296 |
| Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia |
OMIM:618886 |
| Syndromic Diarrhea |
|
Cirrhosis, Hepatomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Abnormality of... |
ORPHA:84064 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia |
OMIM:231095 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... |
ORPHA:98848 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ... |
OMIM:608203 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Enlarged kidney, Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Bone marrow hypocellular... |
OMIM:617303 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617980 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopeni... |
OMIM:612541 |
| Laurin-Sandrow Syndrome |
|
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... |
ORPHA:2378 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... |
OMIM:615952 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:600901 |
| Potocki-Shaffer Syndrome |
|
Anemia |
ORPHA:52022 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Pancreatitis, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:251000 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Wolman Disease |
|
Hepatomegaly, Splenomegaly |
OMIM:620151 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
B lymphocytopenia, Hepatosplenomegaly, Neutropenia |
OMIM:301081 |
| Microphthalmia With Limb Anomalies |
|
Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ... |
ORPHA:1106 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly |
OMIM:614480 |
| Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... |
OMIM:619463 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Impaired a... |
OMIM:614009 |
| Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Spina bifida occulta, Increase... |
OMIM:105650 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum |
ORPHA:411986 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Microcephaly, Syndactyly, Pa... |
OMIM:619091 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Congenital Rubella Syndrome |
|
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:290 |
| Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly, Abnormality of thrombocytes |
ORPHA:172 |
| Acute Monoblastic/Monocytic Leukemia |
|
Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochro... |
ORPHA:514 |
| Hemochromatosis, Type 4 |
|
Hepatic steatosis, Cirrhosis, Hepatomegaly, Anemia |
OMIM:606069 |
| Immunodeficiency 70 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells |
OMIM:618969 |
| Primary Lateral Sclerosis, Juvenile |
|
Cerebral cortical atrophy, Pallor, Abnormal upper motor neuron morphology |
OMIM:606353 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... |
OMIM:153670 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Brucellosis |
|
Lung abscess, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Leukocytosis, Granuloma, Leuk... |
ORPHA:1304 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Thrombocytopenia, Exocrine pancreatic i... |
OMIM:617941 |
| Warburg Micro Syndrome 1 |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cerebellar vermis hypoplasia... |
OMIM:600118 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Anemia |
OMIM:620135 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Hepatomegaly, Impaired ADP-induced platelet aggregation, Hepatosp... |
OMIM:608233 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Bone marrow hypocellularity, Leukopenia... |
OMIM:613990 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... |
ORPHA:331206 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hepatic... |
OMIM:613989 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Pallor |
ORPHA:90033 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Anemia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:277380 |
| Coach Syndrome 3 |
|
Portal fibrosis, Anemia |
OMIM:619113 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... |
OMIM:173590 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
| Omenn Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly... |
ORPHA:39041 |
| Microphthalmia/Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Pierpont Syndrome |
|
Short finger, Microphthalmia, Abnormal cortical gyration, Deep palmar crease, Prominent fingertip... |
ORPHA:487825 |
| Galactosemia Iii |
|
Jaundice, Splenomegaly, Hepatomegaly |
OMIM:230350 |
| Trichohepatoenteric Syndrome 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Large placenta, Cholestasis, Increased mean platelet volume, S... |
OMIM:222470 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Syndactyly, Brachydactyly |
OMIM:615982 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb |
OMIM:609054 |
| Wolcott-Rallison Syndrome |
|
Jaundice, Hepatomegaly, Iron deficiency anemia, Lymphocytosis, Ascites, Exocrine pancreatic insuf... |
ORPHA:1667 |
| Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Radial dysplasia, Hydrocephalus, Tethered cord, Microcephaly, Absent thumb |
OMIM:617244 |
| Sepsis In Premature Infants |
|
Jaundice, Anemia, Hepatomegaly, Leukocytosis, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:90051 |
| Classic Mycosis Fungoides |
|
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly |
ORPHA:2584 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... |
OMIM:619313 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice |
ORPHA:464370 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Macrocephaly, Rhizomelia, Anophthalmia, 2-3 toe syndactyly, 3-4 finger syndactyly |
OMIM:615877 |
| Curry-Jones Syndrome |
|
Microphthalmia, Megalencephaly, Polymicrogyria, Triphalangeal hallux, Lipomyelomeningocele, Hemim... |
OMIM:601707 |
| Barth Syndrome |
|
Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia |
OMIM:302060 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:227650 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Ascites |
OMIM:603278 |
| Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... |
OMIM:615122 |
| Aminopterin Syndrome Sine Aminopterin |
|
Megalencephaly, Macrocephaly, Microcephaly, Arachnodactyly, Rudimentary postaxial polydactyly of ... |
OMIM:600325 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia |
ORPHA:99931 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... |
ORPHA:436159 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc... |
OMIM:618048 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly, Optic nerve hypoplasia |
OMIM:619582 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia |
OMIM:300367 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism |
OMIM:230800 |
| Solitary Median Maxillary Central Incisor |
|
Microcephaly, Microphthalmia, Holoprosencephaly, Anophthalmia |
OMIM:147250 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia |
ORPHA:2668 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
B lymphocytopenia, Decreased proportion of memory B cells |
ORPHA:70593 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
| Orofaciodigital Syndrome Xviii |
|
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac... |
OMIM:617927 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cerebral atrophy, Microphthalmia, Microcephaly, Simplified gyral pattern, Pachygyria, Cerebellar ... |
OMIM:251270 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia |
OMIM:619046 |
| Fanconi Anemia, Complementation Group I |
|
Hypoplasia of the radius, Microphthalmia, Optic nerve hypoplasia, Microcephaly, Absent thumb, Sho... |
OMIM:609053 |
| Neu-Laxova Syndrome 2 |
|
Rocker bottom foot, Finger syndactyly, Spina bifida, Microcephaly, Toe syndactyly, Cerebellar hyp... |
OMIM:616038 |
| Familial Benign Copper Deficiency |
|
Anemia |
ORPHA:1551 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis |
OMIM:266140 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Lymphopeni... |
OMIM:250250 |
| Acute Generalized Exanthematous Pustulosis |
|
Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia, Pallor |
ORPHA:90045 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly |
OMIM:620010 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, Hyp... |
OMIM:615181 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Microcytic anemia, Neutropenia |
OMIM:251900 |
| Retinitis Pigmentosa 51 |
|
Polydactyly, Pallor |
OMIM:613464 |
| Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Toe syndactyly |
DECIPHER:46 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... |
ORPHA:2141 |
| Meckel Syndrome, Type 3 |
|
Polydactyly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand po... |
OMIM:607361 |
| Chiari Malformation Type Ii |
|
Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of co... |
OMIM:207950 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Refractory sideroblastic anemia, Anemia, Pancytopenia, Reticulocytopenia, Siderobla... |
OMIM:557000 |
| Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... |
OMIM:278000 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Abnormality of the calcaneus, ... |
ORPHA:163966 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia |
OMIM:619752 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612562 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... |
OMIM:620367 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Abnormal B cell morphology |
OMIM:616910 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia |
OMIM:620210 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Congenital Heart Block |
|
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... |
ORPHA:60041 |
| Craniorachischisis |
|
Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Spinal dysraphism, Cervical spina bifida |
ORPHA:63260 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hypoplasia of the corpus callosum, Megalencephaly, Macrocephaly, Abnormally large globe, Hydrocep... |
OMIM:603387 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Anemia |
OMIM:614450 |
| Congenital Erythropoietic Porphyria |
|
Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr... |
ORPHA:79277 |
| Periventricular Nodular Heterotopia 1 |
|
Hypoplasia of the corpus callosum, Short finger, Thin corpus callosum, Cerebral hemorrhage, Synda... |
OMIM:300049 |
| Cinca Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Abnormality... |
ORPHA:1451 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... |
OMIM:617052 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Microphthalmia, Syndromic 13 |
|
Microcephaly, Microphthalmia |
OMIM:300915 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged... |
OMIM:257200 |
| Trisomy 13 |
|
Bilateral single transverse palmar creases, Microphthalmia, Anophthalmia, Postaxial hand polydact... |
ORPHA:3378 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Reduced number of intrahepatic bile ducts, Megaloblastic anemia, Neutropenia |
ORPHA:79284 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukemia,... |
OMIM:227645 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... |
OMIM:301310 |
| Pearson Syndrome |
|
Hepatomegaly, Anemia, Pancytopenia, Reticulocytosis, Bone marrow hypocellularity, Macronodular ci... |
ORPHA:699 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly |
ORPHA:85212 |
| Atelis Syndrome 1 |
|
Thrombocytopenia, Leukopenia, Anemia |
OMIM:620184 |
| Joubert Syndrome 16 |
|
Polydactyly, Dandy-Walker malformation, Encephalocele |
OMIM:614465 |
| Familial Focal Epilepsy With Variable Foci |
|
Polymicrogyria, Pallor, Hemimegalencephaly, Focal cortical dysplasia |
ORPHA:98820 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Thin corpus callosum, Cubitus valgus, Camptodactyly, Microcephaly, Down-sloping s... |
OMIM:619694 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
| Plummer-Vinson Syndrome |
|
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:54028 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension |
OMIM:610293 |
| Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Anemia, Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
OMIM:242900 |
| Autosomal Erythropoietic Protoporphyria |
|
Decreased liver function, Cirrhosis, Cholelithiasis, Microcytic anemia, Erythema |
ORPHA:79278 |
| Fatco Syndrome |
|
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... |
ORPHA:2492 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... |
OMIM:613179 |
| Spherocytosis, Type 3 |
|
Spherocytosis, Hemolytic anemia |
OMIM:270970 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Impaired collagen-induced platelet aggregation, Abnormal platelet count, Impaired ristocetin-indu... |
OMIM:614201 |
| Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ... |
ORPHA:83469 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Agyria, Hypoplas... |
OMIM:613153 |
| Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... |
OMIM:139090 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Abnormal ... |
OMIM:620430 |
| Wilson Disease |
|
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Acute hepatitis, Hepatitis, Thrombocytopenia, Splenome... |
ORPHA:905 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... |
OMIM:616005 |
| Moebius Syndrome |
|
Microphthalmia, Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, C... |
OMIM:157900 |
| Summitt Syndrome |
|
Short 4th metacarpal, Macrocephaly, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyl... |
ORPHA:3210 |
| Pgm3-Cdg |
|
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... |
ORPHA:443811 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt... |
OMIM:300400 |
| Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
| Intermediate Osteopetrosis |
|
Hepatosplenomegaly, Anemia |
ORPHA:210110 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... |
OMIM:620486 |
| Adams-Oliver Syndrome 2 |
|
Cerebral atrophy, Microphthalmia, Macrocephaly, Hydrocephalus, Polymicrogyria, Single transverse ... |
OMIM:614219 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia |
OMIM:618838 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda... |
OMIM:135750 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Normocytic anemia, Hepatomegaly, Anemia, Acute myeloid leukemia, Macrocytic anem... |
ORPHA:811 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Anemia |
OMIM:613092 |
| Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
| Nephronophthisis 9 |
|
Anemia |
OMIM:613824 |
| Pierpont Syndrome |
|
Short finger, Microphthalmia, Deep palmar crease, Prominent fingertip pads, Microcephaly, Short p... |
OMIM:602342 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Focal Dermal Hypoplasia |
|
Microphthalmia, Hypoplasia of the iris, Finger syndactyly, Short clavicles, Split hand, Hypoplast... |
ORPHA:2092 |
| Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger |
ORPHA:376 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly |
ORPHA:397596 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... |
ORPHA:98849 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Splenomegaly, Neutropenia |
OMIM:617050 |
| Cyclic Vomiting Syndrome |
|
Microcephaly, Pallor, Cardiomyopathy |
OMIM:500007 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Cardiomegaly |
OMIM:269920 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum |
ORPHA:77298 |
| Immunodeficiency 23 |
|
Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia |
OMIM:615816 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Anemia |
OMIM:226670 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ... |
ORPHA:79301 |
| Copper Deficiency, Familial Benign |
|
Anemia |
OMIM:121270 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia |
OMIM:617827 |
| Relapsing Fever |
|
Jaundice, Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia |
ORPHA:91547 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Cryptorchidism, Anemia, Lymphopenia |
OMIM:620365 |
| Schimke Immuno-Osseous Dysplasia |
|
Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8... |
ORPHA:1830 |
| Good Syndrome |
|
Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Thrombocytopenia, Thymoma, Ap... |
ORPHA:169105 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal metaphysis morphology, Microphthalmia, Rhizomelia, Proximal placement of thumb, Bowing o... |
ORPHA:93267 |
| Splenoportal Vascular Anomalies |
|
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis |
OMIM:271500 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Sandal gap, Joint contracture of the 5th finge... |
OMIM:618914 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Jaundice, Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or activity, Reticulocy... |
ORPHA:447 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia |
OMIM:610163 |
| Griscelli Syndrome |
|
Jaundice, Hepatomegaly, Lymphadenopathy, Encephalocele, Ascites, Bone marrow hypocellularity, Thr... |
ORPHA:381 |
| Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Proximal placement of thumb, Hydrocephalus, Elbow flexion contracture, Short foot, Spina bifida, ... |
OMIM:613776 |
| Nail-Patella Syndrome |
|
Limited elbow extension, Microphakia, Clinodactyly of the 5th finger, Patellar hypoplasia, Glenoi... |
OMIM:161200 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Thrombocytosis, Hepatic steatosis, Hepatomegaly |
OMIM:212065 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
| Neuralgic Amyotrophy |
|
Redundant neck skin, Upper limb amyotrophy, Scapular winging, Syndactyly |
ORPHA:2901 |
| Dermotrichic Syndrome |
|
Anemia |
ORPHA:99688 |
| Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Polydactyly |
OMIM:614845 |
| Prolidase Deficiency |
|
Hepatomegaly, Anemia, Prolonged neonatal jaundice, Thrombocytopenia, Splenomegaly |
OMIM:170100 |
| Dermatitis, Atopic |
|
Pallor, Facial erythema, Dry skin |
OMIM:603165 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Anemia |
ORPHA:1192 |
| Spontaneous Periodic Hypothermia |
|
Aplasia/Hypoplasia of the corpus callosum, Pallor, Arrhythmia |
ORPHA:29822 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... |
ORPHA:3329 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia |
OMIM:240500 |
| Stormorken Syndrome |
|
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... |
OMIM:246570 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... |
OMIM:615607 |
| Necrotizing Enterocolitis |
|
Ascites, Leukocytosis, Thrombocytopenia, Peritonitis, Neutropenia |
ORPHA:391673 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia |
OMIM:618394 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:259710 |
| Revesz Syndrome |
|
Aplastic anemia, Bone marrow hypocellularity, Macrocytic anemia, Neutropenia |
OMIM:268130 |
| Hemolytic Anemia, Congenital, X-Linked |
|
Jaundice, Hemolytic anemia |
OMIM:301015 |
| Chédiak-Higashi Syndrome |
|
Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnor... |
ORPHA:167 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... |
OMIM:616959 |
| Autosomal Agammaglobulinemia |
|
Hepatitis, Neutropenia |
ORPHA:33110 |
| Camptobrachydactyly |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... |
ORPHA:1319 |
| Grange Syndrome |
|
Short palm, Hypertension, Aortic regurgitation, Syndactyly |
ORPHA:79094 |
| Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology |
ORPHA:545 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... |
ORPHA:86839 |
| Anti-Glomerular Basement Membrane Disease |
|
Anemia |
ORPHA:375 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Splenomegaly, Portal hypertension |
OMIM:617068 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia |
OMIM:615966 |
| Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, E... |
OMIM:601775 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly |
OMIM:608540 |
| Transaldolase Deficiency |
|
Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly... |
OMIM:606003 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
| Abetalipoproteinemia |
|
Cirrhosis, Hepatomegaly, Anemia, Reticulocytosis, Cardiomegaly, Hepatic fibrosis, Hepatic steatos... |
ORPHA:14 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Adducted thumb, Bilateral microphthalmos, Flexion contracture of toe, Flared ... |
OMIM:610758 |
| Coproporphyria, Hereditary |
|
Jaundice, Splenomegaly, Hepatomegaly |
OMIM:121300 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hemolytic anemia |
OMIM:609153 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Thrombocytopenia, Hepatosplenomega... |
OMIM:619644 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
| Al-Gazali-Bakalinova Syndrome |
|
Hypoplasia of the corpus callosum, Polydactyly, Macrocephaly, Genu valgum, Tapered finger, Epiphy... |
OMIM:607131 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe, Lissencephaly, Hydrocephalus, Progressive microcephaly, T... |
OMIM:615249 |
| Agammaglobulinemia, X-Linked |
|
Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Ly... |
OMIM:300755 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Neutropenia |
OMIM:618253 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... |
ORPHA:2633 |
| Poikiloderma With Neutropenia |
|
Leukopenia, Splenomegaly, Neutropenia |
OMIM:604173 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Abnormal cortical gyration, Abnormal metacarpal morphology, Anophthalmia, Abnorma... |
ORPHA:2538 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... |
OMIM:274000 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Erythema, Hemolytic anemia, Hepatic failure |
OMIM:177000 |
| Hemochromatosis, Type 5 |
|
Elevated hepatic iron concentration, Anemia |
OMIM:615517 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital bilateral hip dislocation, Shoulder flexion contracture, Elbow flexion contracture, Co... |
ORPHA:536516 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Abnormality of the hand, Microph... |
ORPHA:508498 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation |
OMIM:614171 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia |
ORPHA:3405 |
| Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Leukopenia,... |
ORPHA:50918 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... |
ORPHA:86843 |
| Immunodeficiency 54 |
|
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly |
OMIM:609981 |
| Mosaic Trisomy 9 |
|
Rocker bottom foot, Microphthalmia, Finger clinodactyly, Deep palmar crease, Dandy-Walker malform... |
ORPHA:99776 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia |
ORPHA:169090 |
| Trichothiodystrophy 3, Photosensitive |
|
Abdominal adhesions, Neutropenia, Lymphopenia |
OMIM:616395 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia |
OMIM:617591 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Agenesis... |
OMIM:614815 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis |
OMIM:619658 |
| Meckel Syndrome |
|
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Hydrocephalus, Dandy-Walker malformatio... |
ORPHA:564 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Anemia, Erythroid hypoplasia |
OMIM:618165 |
| Basal Cell Nevus Syndrome 1 |
|
Polydactyly, Short 4th metacarpal, Microphthalmia, Macrocephaly, Palmar pits, Hydrocephalus, Calc... |
OMIM:109400 |
| Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly |
ORPHA:30 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... |
OMIM:616100 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... |
OMIM:617237 |
| Monosomy 5P |
|
Microcephaly, Finger syndactyly, Small hand |
ORPHA:281 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Anemia, Increased mean corpuscular volume, Ascites, Sideroblastic anemia, Thrombocytopenia, Eryth... |
OMIM:617021 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools |
OMIM:619868 |
| Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
| Sclerosteosis |
|
Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of ... |
ORPHA:3152 |
| Ovalocytosis, Southeast Asian |
|
Elliptocytosis, Hemolytic anemia |
OMIM:166900 |
| C1Q Deficiency 2 |
|
Anemia |
OMIM:620321 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act... |
OMIM:611881 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymphopenia, Abnor... |
OMIM:602450 |
| Cerebrooculonasal Syndrome |
|
Hypoplasia of the corpus callosum, Macrocephaly, Encephalocele, Anophthalmia, Cerebellar vermis h... |
OMIM:605627 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax... |
OMIM:615986 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:619183 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia |
OMIM:188740 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Hypoplasia of the corpus callosum, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the pha... |
OMIM:617102 |
| Caudal Duplication |
|
Spinal cord lesion, Myelomeningocele, Spina bifida |
ORPHA:1756 |
| Brachydactyly, Type B1 |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br... |
OMIM:113000 |
| Adams-Oliver Syndrome |
|
Periventricular leukomalacia, Gastrointestinal hemorrhage, Microphthalmia, Abnormal metacarpal mo... |
ORPHA:974 |
| Neurooculocardiogenitourinary Syndrome |
|
Secondary microcephaly, Redundant neck skin, Microphthalmia, Abnormality of the palmar creases, T... |
OMIM:618652 |
| Foveal Hypoplasia 2 |
|
Microphthalmia, Hypoplasia of the fovea |
OMIM:609218 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Anencephaly, Dandy-Walker malformation, Postaxial hand polydactyly, Camp... |
OMIM:614175 |
| Joubert Syndrome 14 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Encephalocele, Meningocele, Cerebellar vermis ... |
OMIM:614424 |
| Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Biliary tract abnormality, Cholangitis, Viral hepatitis, Neutropenia |
OMIM:209920 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612926 |
| Cousin Syndrome |
|
Microphthalmia, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypopl... |
OMIM:260660 |
| Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology |
ORPHA:2522 |
| Terminal Osseous Dysplasia |
|
Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of... |
OMIM:300244 |
| Systemic Lupus Erythematosus |
|
Thrombocytopenia, Leukopenia, Hemolytic anemia |
OMIM:152700 |
| Tibial Hemimelia |
|
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele... |
ORPHA:93322 |
| Hypophosphatasia |
|
Anemia |
ORPHA:436 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph... |
OMIM:102700 |
| Camptobrachydactyly |
|
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly |
OMIM:114150 |
| Cronkhite-Canada Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:2930 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Spina bifida |
ORPHA:2345 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Ascites, Anemia, Leukocytosis |
ORPHA:2070 |
| Diabetic Embryopathy |
|
Hydrocephalus, Microcephaly, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Aplasia/Hyp... |
ORPHA:1926 |
| Muckle-Wells Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:575 |
| 14Q22Q23 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,... |
ORPHA:264200 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Hepatocellular carcinoma, Splenomegaly |
OMIM:613490 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Infection associated neutropenia, Hepatic steatosis, Neutropenia |
ORPHA:445038 |
| Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Microphthalmia, Oligodactyly, Forearm undergrowth, Micromelia, Microcephaly,... |
OMIM:251230 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor |
ORPHA:276556 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly |
OMIM:214900 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Res... |
ORPHA:88630 |
| Aceruloplasminemia |
|
Anemia |
OMIM:604290 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Splenomegaly, Schistocytosis |
OMIM:616084 |
| Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia, Anemia |
OMIM:618882 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Jaundice, Anemia, Hepatomegaly, Abnormal natural killer cell count, Pancytopenia, Ascites, Abnorm... |
ORPHA:79124 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat... |
OMIM:616828 |
| Wiskott-Aldrich Syndrome |
|
Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of... |
ORPHA:906 |
| Adult-Onset Still Disease |
|
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, S... |
ORPHA:829 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612924 |
| Aspergillosis |
|
Eosinophilia, Hepatitis, Neutropenia |
ORPHA:1163 |
| Cerebrocostomandibular Syndrome |
|
Clinodactyly of the 5th finger, Hydranencephaly, Meningocele, Cerebral calcification, Porencephal... |
ORPHA:1393 |
| Orofaciodigital Syndrome Iv |
|
Cerebral atrophy, Short finger, Porencephalic cyst, Foot polydactyly, Postaxial polydactyly, Hand... |
OMIM:258860 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Hepatic steatosis, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:616271 |
| Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Thrombocytopenia, Leukocytosis |
ORPHA:94093 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n... |
ORPHA:37042 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Leukopenia, ... |
OMIM:267700 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... |
OMIM:242700 |
| Gaucher Disease Type 1 |
|
Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic... |
ORPHA:77259 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Splenomega... |
OMIM:612783 |
| Trisomy 18 |
|
Bilateral single transverse palmar creases, Microphthalmia, Anencephaly, Abnormal hip bone morpho... |
ORPHA:3380 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Umbilical hernia, Ulnar... |
ORPHA:1101 |
| Solitary Rectal Ulcer Syndrome |
|
Anemia |
ORPHA:209964 |
| Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly |
OMIM:602271 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Microphthalmia, Symphalangism affecting the phalanges of the hand |
ORPHA:2547 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Macrocephaly, Hydrocephalus, Polymicrogyria, Finger syndactyly, Cerebral ischemia, Foot polydacty... |
ORPHA:60040 |
| Iniencephaly |
|
Rocker bottom foot, Syringomyelia, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-W... |
ORPHA:63259 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612925 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
| Mevalonic Aciduria |
|
Splenomegaly |
ORPHA:29 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Bone marrow hypocellularity |
ORPHA:3322 |
| Majeed Syndrome |
|
Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Splenomegaly, Congenital hypoplastic a... |
ORPHA:77297 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Facial erythema, Cerebral edema, Abnormal ce... |
ORPHA:439218 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microcephaly, Camptodactyly of finger, Microphthalmia, Rocker bottom foot |
OMIM:610756 |
| Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Reduced natural killer cell count |
OMIM:241600 |
| Amyloidosis, Familial Visceral |
|
Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
| Bresek Syndrome |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Postaxial hand polydactyly, Microcephaly |
ORPHA:85284 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hypoplasia of the radius, Microphthalmia, Anophthalmia, Hydrocephalus, Spina... |
ORPHA:3412 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Flexion contracture of toe, Finger joint contracture, Cerebral cortical atrophy, ... |
ORPHA:48431 |
| Tempi Syndrome |
|
Polycythemia, Facial erythema, Increased hematocrit |
ORPHA:284227 |
| Farber Lipogranulomatosis |
|
Lipogranulomatosis, Hepatomegaly, Splenomegaly |
OMIM:228000 |
| Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Absent distal phalanges, Microphthalmia, Small hand |
OMIM:619339 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content |
OMIM:261750 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Splenomegaly, Cardiomegaly |
OMIM:256550 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor |
ORPHA:276575 |
| Weaver Syndrome |
|
Abnormal metaphysis morphology, Macrocephaly, Sandal gap, Finger syndactyly, Redundant skin, Broa... |
ORPHA:3447 |
| Sézary Syndrome |
|
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly |
ORPHA:3162 |
| Orofaciodigital Syndrome Viii |
|
Polydactyly, Short tibia, Syndactyly |
OMIM:300484 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... |
OMIM:617443 |
| Immunodeficiency 40 |
|
Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia |
OMIM:616433 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
| Boomerang Dysplasia |
|
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd... |
ORPHA:1263 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Hepatosplenom... |
OMIM:606367 |
| Fusariosis |
|
Lung abscess, Brain abscess, Granuloma, Abnormality of the spleen, Peritonitis, Lymphopenia, Abno... |
ORPHA:228119 |
| Icf Syndrome |
|
Umbilical hernia, Abnormality of neutrophils, Anemia, Lymphopenia |
ORPHA:2268 |
| Elliptocytosis 3 |
|
Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume |
OMIM:617948 |
| Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... |
OMIM:258900 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Purpura, Clinodactyly of the 5th finger, Ulnar bowing, Petechiae, Proximal radio-ulnar synostosis... |
OMIM:605432 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplasia of the corpus callosum, Preaxial polydactyly, Bilateral talipes equinovarus, Microceph... |
OMIM:618142 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, Upper limb asymmetry, Relative macrocephaly, Clinodactyly of the 5th finger |
ORPHA:231140 |
| Temtamy Syndrome |
|
Microphthalmia, Aortic regurgitation, Short 2nd toe, Agenesis of corpus callosum, Brachydactyly, ... |
OMIM:218340 |
| Kawasaki Disease |
|
Cervical lymphadenopathy, Jaundice, Leukocytosis, Thrombocytosis, Hepatitis, Cholecystitis |
ORPHA:2331 |
| Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Anemia, Leukocytosis |
ORPHA:90060 |
| Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
| Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Agenesis of corpus callosum, Lissencephaly |
ORPHA:99742 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor |
ORPHA:276580 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenopathy, Leukopenia, Sple... |
OMIM:603553 |
| Neu-Laxova Syndrome 1 |
|
Rocker bottom foot, Microphthalmia, Radial deviation of finger, Primary microcephaly, Clinodactyl... |
OMIM:256520 |
| Charlie M Syndrome |
|
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Brachydactyly |
ORPHA:1406 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
B lymphocytopenia, Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia |
OMIM:620133 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocy... |
OMIM:227646 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cerebral cortical atrophy, Syringomyelia, Congenital bilateral hip dislocation, Syndactyly |
ORPHA:404451 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Macrocephaly, Finger syndactyly, Microcephaly, Brachydactyly, Clinodactyly |
ORPHA:313781 |
| Mcleod Syndrome |
|
Acanthocytosis, Hepatomegaly, Splenomegaly |
OMIM:300842 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Complete duplication of the middle phalanx of the 3rd finger, Radial deviation of finger, Tarsal ... |
ORPHA:363417 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar kerato... |
ORPHA:2251 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Redundant skin, Finger syndactyly, Clinodactyly |
ORPHA:251046 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia |
OMIM:614069 |
| Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit |
OMIM:263400 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:259700 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia |
OMIM:615399 |
| Non-Functioning Paraganglioma |
|
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... |
ORPHA:94080 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Microphthalmia, Second metatarsal posteriorly placed, Elbow flexion contractu... |
OMIM:214150 |
| Bazex Syndrome |
|
Anemia |
ORPHA:166113 |
| Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Pancreatitis, Anemia, Neutropenia |
ORPHA:537 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplasia of the corpus callosum, Y-shaped metacarpals, Postaxial polydactyly, Mesoaxial hand po... |
OMIM:615996 |
| Diamond-Blackfan Anemia 10 |
|
Reticulocytopenia, Steroid-responsive anemia, Anemia, Macrocytic anemia |
OMIM:613309 |
| Cholesteryl Ester Storage Disease |
|
Cirrhosis, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:75234 |
| Glanzmann Thrombasthenia 1 |
|
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired platelet ag... |
OMIM:273800 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
| Corticosteroid-Binding Globulin Deficiency |
|
Anemia |
OMIM:611489 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Anemia |
ORPHA:329971 |
| Sandestig-Stefanova Syndrome |
|
Hypoplasia of the corpus callosum, Bilateral single transverse palmar creases, Rocker bottom foot... |
OMIM:618804 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Polydactyly |
OMIM:616490 |
| Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia |
ORPHA:195 |
| Focal Dermal Hypoplasia |
|
Microphthalmia, Aniridia, Short metacarpal, Myelomeningocele, Microcephaly, Split foot, Umbilical... |
OMIM:305600 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Hepatomegaly, Splenomegaly |
OMIM:615637 |
| Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... |
ORPHA:464329 |
| Drug-Induced Lupus Erythematosus |
|
Thrombocytopenia, Anemia |
ORPHA:231111 |
| Holoprosencephaly |
|
Spinal cord tumor, Microphthalmia, Macrocephaly, Encephalocele, Anophthalmia, Hydrocephalus, Dand... |
ORPHA:2162 |
| Orofaciodigital Syndrome Xvii |
|
Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Partial duplication of thumb phala... |
OMIM:617926 |
| Mosaic Trisomy 1 |
|
Rocker bottom foot, Microphthalmia, Broad 2nd toe, Arachnodactyly, Long toe, Deviation of the 5th... |
ORPHA:1692 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Microphthalmia, Optic nerve hypoplasia, Polymicrogyria, Microcephaly,... |
OMIM:614833 |
| Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Dry skin |
OMIM:600906 |
| Hallermann-Streiff Syndrome |
|
Abnormality of the hand, Microphthalmia, Slender long bone, Hypertension, Dry skin, Pulmonary art... |
OMIM:234100 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:612526 |
| Immunodeficiency, Common Variable, 7 |
|
Splenomegaly |
OMIM:614699 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Anemia |
ORPHA:79409 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Type II lissencep... |
ORPHA:370959 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Secondary microcephaly, Cerebellar hypoplasia, Microphthalmia |
OMIM:613730 |
| 3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Proximal placement of thumb, Cerebral white matter atrophy, Pulmonic stenosis, Br... |
ORPHA:435638 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Ring Chromosome 21 Syndrome |
|
Narrow palm, Microcephaly, Holoprosencephaly, Syndactyly, Clinodactyly, Small hand |
ORPHA:1445 |
| Castleman Disease |
|
Jaundice, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Abdominal mass, Thrombocytopenia,... |
ORPHA:160 |
| Marburg Hemorrhagic Fever |
|
Jaundice, Pancreatitis, Lymphadenopathy, Neutrophilia in presence of infection, Abnormal lymphocy... |
ORPHA:99826 |
| 3Q29 Microduplication Syndrome |
|
Microphthalmia, Macrocephaly, Aniridia, Sandal gap, Biparietal narrowing, Microcephaly, Camptodac... |
ORPHA:251038 |
| Martsolf Syndrome 1 |
|
Periventricular white matter hyperintensities, Congestive heart failure, Microphthalmia, Slender ... |
OMIM:212720 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Hurler-Scheie Syndrome |
|
Abnormality of the tonsils, Hepatomegaly, Splenomegaly |
ORPHA:93476 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
| Glycogen Storage Disease Ib |
|
Enlarged kidney, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Splenomegaly, Pancreatic f... |
OMIM:232220 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Rectal abscess, Neutropenia |
OMIM:601495 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Thrombocytopenia, Leukopenia, Anemia, Pancytopenia |
OMIM:613845 |
| Rh-Null, Regulator Type |
|
Stomatocytosis, Jaundice, Hemolytic anemia |
OMIM:268150 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Anemia |
ORPHA:53 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly, Tricuspid regurgitation |
OMIM:600151 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic anemia, Macrocytic anemia, Ch... |
OMIM:615512 |
| Rhombencephalosynapsis |
|
Polydactyly, Macrocephaly, Hydrocephalus, Finger syndactyly, Septo-optic dysplasia, Short phalanx... |
ORPHA:59315 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Anemia, Elevated circulating alanine aminotransferase concentration, Elevated circu... |
OMIM:246450 |
| Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis, Aplasia/Hypoplasia of the thumb, Short hallux, Finger syndactyly, Broad thum... |
ORPHA:93258 |
| Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... |
ORPHA:2756 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Jaundice, Hepatomegaly, Splenomegaly, Stomatocytosis, Hemolytic anemia |
OMIM:608885 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Palpitations, Pallor, Tachycardia |
ORPHA:324575 |
| Monosomy 18P |
|
Microphthalmia, Hypertension, Microcephaly, Holoprosencephaly, Brachydactyly |
ORPHA:1598 |
| Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Microphthalmia, Anophthalmia |
OMIM:610125 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Hypoplasia of the ulna, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... |
ORPHA:1352 |
| Hemochromatosis, Type 2A |
|
Cirrhosis, Hepatomegaly, Splenomegaly |
OMIM:602390 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614096 |
| Joubert Syndrome 7 |
|
Genu valgum, Encephalocele, Abnormal corpus callosum morphology, Postaxial hand polydactyly, Post... |
OMIM:611560 |
| Craniofrontonasal Dysplasia |
|
Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly,... |
ORPHA:1520 |
| Houge-Janssens Syndrome 2 |
|
Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Postaxial polydactyly, Broad hall... |
OMIM:616362 |
| Leukocyte Adhesion Deficiency |
|
Perianal abscess, Acute myeloid leukemia, Recurrent tonsillitis, Impaired platelet aggregation, L... |
ORPHA:2968 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cerebellar hypoplasia, Dilated cardiomyopathy, Microphthalmia, Reduced systolic function |
OMIM:618805 |
| Warburg Micro Syndrome 2 |
|
Secondary microcephaly, Hypoplasia of the corpus callosum, Global brain atrophy, Clinodactyly of ... |
OMIM:614225 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Purpura, Hepatomegaly, Splenomegaly, Pallor, Abnormality of neutrophils, Leukemia |
ORPHA:33226 |
| Common Variable Immunodeficiency |
|
Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombocytopenia... |
ORPHA:1572 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cirrhosis, Cholangitis, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Porta... |
ORPHA:228426 |
| Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Lissencephaly, Cerebral calcification, Dandy-Walker malformation, Pol... |
ORPHA:2671 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Microcephaly, Bilateral microphthalmos, Diffuse cerebral atrophy, Corpus callosum atrophy |
ORPHA:77299 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Redundant neck skin, Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar cr... |
OMIM:236500 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili... |
ORPHA:1414 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Anemia |
OMIM:620366 |
| Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Triphalangeal thumb, Abnormal metacarpal morphology, Finger synda... |
ORPHA:392 |
| Limb Body Wall Complex |
|
Short umbilical cord, Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Encepha... |
ORPHA:2369 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Hypereosinophilia, Hepatomegaly, Splenomegaly |
OMIM:617388 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... |
OMIM:619849 |
| Sialidosis Type 2 |
|
Ascites, Hepatomegaly, Splenomegaly, Umbilical hernia |
ORPHA:87876 |
| Baraitser-Winter Syndrome 2 |
|
Secondary microcephaly, Microphthalmia, Pachygyria, Agenesis of corpus callosum, Lissencephaly |
OMIM:614583 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H... |
OMIM:610377 |
| Myoclonic-Astatic Epilepsy |
|
Microcephaly, Microphthalmia, Premature skin wrinkling, Syndactyly |
ORPHA:1942 |
| American Trypanosomiasis |
|
Pallor, Hepatomegaly, Splenomegaly |
ORPHA:3386 |
| Nephronophthisis 19 |
|
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... |
OMIM:616217 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia |
OMIM:607944 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hypoplasia of the corpus callosum, Adducted thumb, Macrocephaly, Microphthalmia, Encephalocele, L... |
OMIM:614643 |
| Frontorhiny |
|
Microphthalmia, Encephalocele, Camptodactyly of finger, Basal encephalocele, Brachydactyly, Peric... |
ORPHA:391474 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Narrow greater sciatic notch, Microphthalmia, Rhizomelia, Flared metaphysis, Short long bone, Met... |
ORPHA:85167 |
| Joubert Syndrome 20 |
|
Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma |
ORPHA:615 |
| Histiocytoid Cardiomyopathy |
|
Congestive heart failure, Microphthalmia, Wolff-Parkinson-White syndrome, Atrial flutter, Hydroce... |
ORPHA:137675 |
| Weismann-Netter Syndrome |
|
Anemia |
ORPHA:3344 |
| Acrofrontofacionasal Dysostosis 2 |
|
Redundant neck skin, Microcephaly, Broad thumb, Hand polydactyly, Broad hallux, Syndactyly |
OMIM:239710 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Tr... |
OMIM:619879 |
| Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:391 |
| Endove Syndrome, Limb-Only Type |
|
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... |
OMIM:619217 |
| Sirenomelia |
|
Sirenomelia, Aplasia/Hypoplasia of the radius, Spina bifida |
ORPHA:3169 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Microcephaly, Arachnodactyly, Camptodactyly of finger, Sh... |
ORPHA:2994 |
| Gracile Bone Dysplasia |
|
Microphthalmia, Aniridia, Slender long bone, Hydrocephalus, Flared metaphysis, Brachydactyly |
OMIM:602361 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Microphthalmia, Short first metatarsal, Ulnar bowing, Epiphyseal stipplin... |
OMIM:619135 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia, Leukopenia, Anemia |
OMIM:255125 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Microphthalmia, Proximal placement of thumb, Hypoplastic pubic r... |
OMIM:609945 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Autoimmune hemolytic anemia, Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune t... |
OMIM:620565 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly |
ORPHA:59303 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Anemia |
OMIM:608068 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Anemia, Cholestasis, Ascites, Thrombocytopenia |
OMIM:608104 |
| Roifman Syndrome |
|
Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:616651 |
| Gaucher Disease, Type Ii |
|
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly |
OMIM:230900 |
| Garg-Mishra Progeroid Syndrome |
|
Secondary microcephaly, Microphthalmia, Slender long bone, Slender metacarpals, Broad palm, Coxa ... |
OMIM:620601 |
| Orofaciodigital Syndrome Ii |
|
Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Hydrocephalus... |
OMIM:252100 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia |
OMIM:618835 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Microphthalmia, Optic nerve hypoplasia, Microlissencephaly, Sm... |
OMIM:617914 |
| Immunodeficiency 22 |
|
Anemia, Ascites, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Abscess |
OMIM:615758 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Microcephaly, Syndactyly |
OMIM:615284 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia |
OMIM:618839 |
| Hypermanganesemia With Dystonia 1 |
|
Polycythemia, Hepatomegaly, Cirrhosis |
OMIM:613280 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Macrocephaly, Clinodactyly of the 5th finger, Genu valgum, Prominent fingertip pads, Microcephaly... |
OMIM:619721 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Deep palmar crease, Clinodactyly of the 5th finger, Cutis laxa, Syndactyly, Brachydactyly, Genu v... |
OMIM:619451 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
| Pediatric-Onset Graves Disease |
|
Jaundice, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, S... |
ORPHA:525731 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb |
ORPHA:1825 |
| Refsum Disease |
|
Microphthalmia, Heart block, Hammertoe, Cardiomyopathy, Short metacarpal, Dry skin, Abnormal epip... |
ORPHA:773 |
| Fanconi Anemia, Complementation Group S |
|
Microcephaly, Clinodactyly, Microphthalmia, Proximal placement of thumb |
OMIM:617883 |
| Congenital Factor Ii Deficiency |
|
Anemia |
ORPHA:325 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia, Anencephaly, Encephalocele, Dandy-Walker malformation, Single transverse palmar c... |
OMIM:619148 |
| Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Short first metatarsal, Prominent fingertip pads, Microcephaly, Broad thumb, Broad... |
OMIM:613684 |
| Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
| 1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Hydrocephalus, Microcephaly, Broad thumb, Foot po... |
ORPHA:250989 |
| Cartilage-Hair Hypoplasia |
|
Abnormal hip bone morphology, Tibial bowing, Cardiomyopathy, Mesomelia, Abnormal epiphysis morpho... |
ORPHA:175 |
| Nephronophthisis 4 |
|
Anemia |
OMIM:606966 |
| Microphthalmia, Syndromic 2 |
|
Hypoplasia of the corpus callosum, 2-3 toe cutaneous syndactyly, Microphthalmia, Hammertoe, Sanda... |
OMIM:300166 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Microcephaly, Arachnodactyly, Clinodactyly, Syndactyly |
OMIM:619092 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Ethmoidal encephalocele, Optic nerve hypoplasia, Broad proximal phalang... |
OMIM:607597 |
| Chronic Granulomatous Disease |
|
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils |
ORPHA:379 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb b... |
ORPHA:2788 |
| Gm1-Gangliosidosis, Type Iii |
|
Hepatomegaly, Splenomegaly |
OMIM:230650 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Limb-Mammary Syndrome |
|
Split hand, Camptodactyly, Split foot, Syndactyly, Hallux valgus, Joint contracture of the hand |
OMIM:603543 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly |
OMIM:306000 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
| Khan-Khan-Katsanis Syndrome |
|
Neutropenia, Anemia, Lymphopenia |
OMIM:618460 |
| Dravet Syndrome |
|
Global brain atrophy, Pallor, Tibial torsion |
ORPHA:33069 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Leukocytosis, Lymphadenitis, Splenomegaly, He... |
OMIM:615895 |
| 2Q31.1 Microdeletion Syndrome |
|
Abnormal fibula morphology, Microphthalmia, Abnormal tibia morphology, Abnormal metacarpal morpho... |
ORPHA:251014 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... |
ORPHA:90362 |
| Campomelic Dysplasia |
|
Dislocated radial head, Hypoplastic iliac wing, Relative macrocephaly, Femoral bowing, Short long... |
OMIM:114290 |
| Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
| Whim Syndrome |
|
Neutropenia, Lymphadenitis, Abnormal neutrophil morphology, Lymphopenia |
ORPHA:51636 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Brachydactyly |
OMIM:613819 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microcephaly, Global brain atrophy, Microphthalmia |
OMIM:308350 |
| Sandifer Syndrome |
|
Anemia |
ORPHA:71272 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... |
OMIM:600802 |
| Fanconi Anemia |
|
Hypoplasia of the ulna, Abnormal thumb morphology, Aplasia/Hypoplasia of fingers, Abnormal femur ... |
ORPHA:84 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... |
OMIM:612576 |
| Microphthalmia, Syndromic 6 |
|
Polydactyly, Abnormality of the hand, Microphthalmia, Inferior cerebellar vermis hypoplasia, Clin... |
OMIM:607932 |
| Malt Lymphoma |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Portal inflammation... |
OMIM:602347 |
| Duane-Radial Ray Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr... |
OMIM:607323 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulat... |
OMIM:614946 |
| Pseudotrisomy 13 Syndrome |
|
Microphthalmia, Encephalocele, Hydrocephalus, Polymicrogyria, 2-3 toe syndactyly, Postaxial hand ... |
OMIM:264480 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Hypoplasia of the corpus callosum, Microphthalmia, Thin corpus callosum, Single transverse palmar... |
OMIM:614105 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Cavum septum pellucidum, Relative m... |
OMIM:617306 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Hepatomegaly, Thrombocytopenia, Neutropenia |
OMIM:277400 |
| Tangier Disease |
|
Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat... |
ORPHA:31150 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl... |
OMIM:605282 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit... |
OMIM:127550 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... |
ORPHA:860 |
| Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Leukocytosis |
ORPHA:1302 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Abnormal femoral neck/head morphology, Abnormality of the elbow, Hemiatrophy of u... |
ORPHA:163649 |
| Storage Pool Platelet Disease |
|
Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
| Joubert Syndrome 17 |
|
Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Trisomy 20P |
|
Abnormal hip bone morphology, Finger syndactyly, Spina bifida, Camptodactyly of finger, Brachydac... |
ORPHA:261318 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Congenital hypoplastic anemia, Anemia of inadequate production, Macrocytic anemia, Jaundice |
OMIM:105600 |
| Heart And Brain Malformation Syndrome |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Global brain atrophy, Microphthalmia, Cerebe... |
OMIM:616920 |
| Stevenson-Carey Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Camptodactyly, Hip dysplasia, Cerebellar hypop... |
OMIM:611961 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Small placenta, Clinodactyly of the 5th finger, Relative macrocephaly, Ectrodactyly,... |
ORPHA:397590 |
| Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Hypochromic microcytic anemia, Anemia, Cholestasis, Portal hypertensio... |
ORPHA:440713 |
| Psoriasis 14, Pustular |
|
Cholangitis, Neutrophilia, Leukocytosis |
OMIM:614204 |
| Rheumatic Fever |
|
Myocarditis, Hemiballismus, Pericarditis, Epistaxis, Arrhythmia, Pallor, Erythema |
ORPHA:3099 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Microphthalmia |
OMIM:601794 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Tapered finger, Sandal gap |
ORPHA:1438 |
| Stiff-Person Syndrome |
|
Anemia |
OMIM:184850 |
| Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Microphthalmia, Postaxial polydactyly, Hypoplasia of the corpus cal... |
OMIM:619185 |
| Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Microphthalmia, Brachydactyly |
OMIM:614526 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Microcephaly, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Leukocytosis |
ORPHA:1930 |
| Oculofaciocardiodental Syndrome |
|
Microphthalmia, Genu valgum, Cubitus valgus, Hammertoe, Clinodactyly of the 5th finger, 2-3 toe s... |
ORPHA:2712 |
| Congenital Pulmonary Lymphangiectasia |
|
Ascites, Hepatomegaly, Splenomegaly |
ORPHA:2414 |
| Orofaciodigital Syndrome Vi |
|
Fibular aplasia, Radial deviation of finger, Cerebellar vermis hypoplasia, Polymicrogyria, Tibial... |
OMIM:277170 |
| Cockayne Syndrome Type 2 |
|
Anophthalmia, Subcortical white matter calcifications |
ORPHA:90322 |
| Femoral-Facial Syndrome |
|
Limited elbow movement, Aplasia/hypoplasia of the femur, Encephalocele, Hypoplastic acetabulae, S... |
OMIM:134780 |
| Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:239200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Macrocephaly, Cerebellar vermis hypoplasia, Ce... |
OMIM:616538 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda... |
OMIM:615994 |
| Senior-Loken Syndrome 8 |
|
Polydactyly, Pallor |
OMIM:616307 |
| Irida Syndrome |
|
Pallor, Intrahepatic cholestasis |
ORPHA:209981 |
| Filippi Syndrome |
|
Finger clinodactyly, Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cutaneous... |
OMIM:272440 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Cirrhosis, Hepatomegaly, Splenomegaly |
OMIM:613489 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Overlapping fingers, Microphthalmia, Cavum s... |
ORPHA:464738 |
| Aicardi Syndrome |
|
Microphthalmia, Proximal placement of thumb, Cavum septum pellucidum, Cerebellar vermis hypoplasi... |
OMIM:304050 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Ascites, Hepatos... |
OMIM:259720 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Microphthalmia, Internal hemorrhage, Clubbing of fingers |
ORPHA:335 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Bilateral single transverse palmar creases, Microphthalmia, Synostosis of carpal bones, Arrhythmia |
ORPHA:3191 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... |
OMIM:601847 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Anemia, Left ventricular hypertrophy |
ORPHA:85451 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Abnormal thumb morphology, Microphthalmia, Radial club hand, Triphalangea... |
ORPHA:959 |
| Developmental And Epileptic Encephalopathy 50 |
|
Anisopoikilocytosis, Anemia, Acanthocytosis, Schistocytosis |
OMIM:616457 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
| Marden-Walker Syndrome |
|
Microphthalmia, Inferior cerebellar vermis hypoplasia, Dandy-Walker malformation, Camptodactyly, ... |
OMIM:248700 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta |
ORPHA:1514 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
| Immunodeficiency 47 |
|
Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Cholestasis, Prolonged neonatal jau... |
OMIM:300972 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Pseudo-Torch Syndrome 1 |
|
Jaundice, Hepatomegaly, Thrombocytopenia, Splenomegaly, Umbilical hernia |
OMIM:251290 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, H... |
OMIM:147750 |
| Congenital Sialidosis Type 2 |
|
Polydactyly, Macrocephaly, Petechiae, Hydrocephalus, Hypoplasia of the fovea, Umbilical hernia, A... |
ORPHA:93400 |
| Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Microcephaly, Aortic valve stenosis, Duplication of phalanx of hallux, Pachygyria... |
OMIM:243310 |
| Jacobsen Syndrome |
|
Cerebral atrophy, Macrocephaly, Finger syndactyly, Spina bifida, Aortic valve stenosis, Toe clino... |
ORPHA:2308 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Macrocephaly, Femoral bowing, Short long bone, Acetabular spurs, Postaxial ... |
OMIM:615503 |
| Niemann-Pick Disease, Type C1 |
|
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno... |
OMIM:257220 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplasia of the radius, Relative macrocephaly, Hypoplastic ilia, Micromelia, Postaxial polydact... |
OMIM:617895 |
| Nephronophthisis 1 |
|
Anemia |
OMIM:256100 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cerebellar vermis hypoplasia... |
OMIM:618494 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
| Otopalatodigital Syndrome, Type Ii |
|
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Umbilical herni... |
OMIM:304120 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndactyly, Postaxial po... |
OMIM:217085 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Liver abscess, Anemia, Leukocytosis |
ORPHA:67 |
| Mirage Syndrome |
|
Anemia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia |
OMIM:617053 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Cerebellar vermis hypoplasia, Polymicrogyria, Dry skin, Cutis laxa |
OMIM:612379 |
| Holoprosencephaly 9 |
|
Microphthalmia, Thin corpus callosum, Abnormal cortical gyration, Alobar holoprosencephaly, Hydro... |
OMIM:610829 |
| Rothmund-Thomson Syndrome |
|
Aplastic anemia, Anemia, Leukemia, Neutropenia |
ORPHA:2909 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Neutropenia |
OMIM:615471 |
| Pallister-Hall Syndrome |
|
Short 4th metacarpal, Preaxial polydactyly, Distal shortening of limbs, Microphthalmia, Y-shaped ... |
OMIM:146510 |
| Kenny-Caffey Syndrome, Type 1 |
|
Anemia |
OMIM:244460 |
| Nephronophthisis 11 |
|
Hepatic fibrosis, Anemia |
OMIM:613550 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Neutrophilia, Abscess, Splenomegaly, Hepatomegaly |
OMIM:612852 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Free Sialic Acid Storage Disease |
|
Ascites, Hepatomegaly, Splenomegaly |
ORPHA:834 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Tethered cord, Microcephaly, Aortic valve stenosis, Mitral stenosis, Spinal dysraphism |
OMIM:617660 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,... |
ORPHA:35078 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Abnormality of the pancreas, Lymphopenia |
ORPHA:935 |
| Mixed Connective Tissue Disease |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Hemolytic a... |
ORPHA:809 |
| Cloacal Exstrophy |
|
Abnormal fibula morphology, Abnormal tibia morphology, Absent foot, Myelomeningocele, Spina bifid... |
ORPHA:93929 |
| Pfeiffer Syndrome |
|
3-4 toe cutaneous syndactyly, Hydrocephalus, Shortening of all middle phalanges of the fingers, F... |
OMIM:101600 |
| Oculopalatocerebral Syndrome |
|
Microcephaly, Microphthalmia |
OMIM:257910 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Short long bone, Brachydactyly |
OMIM:615633 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Single transverse palmar crease, 2-3 toe synda... |
OMIM:617866 |
| Arteriosclerosis, Severe Juvenile |
|
Anemia |
OMIM:208060 |
| Oculo-Palato-Cerebral Syndrome |
|
Global brain atrophy, Microphthalmia, Frontal cortical atrophy, Microcephaly, Aplasia/Hypoplasia ... |
ORPHA:2714 |
| Fanconi Anemia, Complementation Group P |
|
Anemia, Pancytopenia |
OMIM:613951 |
| Poland Syndrome |
|
Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Syndactyly |
OMIM:173800 |
| Roberts Syndrome |
|
Bilateral single transverse palmar creases, Hypoplasia of the radius, Microphthalmia, Radial devi... |
ORPHA:3103 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Portal hypertension, Foot oligodactyly, Syndactyly, Brachydactyly |
OMIM:616589 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypochromic microcytic anemia, Anemia |
OMIM:619147 |
| Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Triploidy |
|
Macrocephaly, Meningocele, Hydrocephalus, Finger syndactyly, Aplasia/Hypoplasia affecting the eye... |
ORPHA:3376 |
| Neuroblastoma, Susceptibility To, 1 |
|
Anemia, Abdominal mass |
OMIM:256700 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:612301 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatocellular adenoma, Cirrhosis, Anemia, Portal fibrosis, Hepatomegaly, Abnormal erythrocyte en... |
ORPHA:264580 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... |
ORPHA:3092 |
| Adams-Oliver Syndrome 1 |
|
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Microphthalmia, Encephalocele, P... |
OMIM:100300 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Limited elbow extension, Diaphyseal undertubulation, Clinodactyly of the 5th finger, Proximal pla... |
OMIM:620663 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Macrodactyly, Spinal dysraphism, Tethered cord, Sandal gap |
OMIM:612918 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Microcephaly, Postaxial polydactyly, Overlapping toe, Tapered finger, Macular hypoplasia |
OMIM:613792 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Narrow greater sciatic notch, Short finger, Microphthalmia, Rhizomelia, Flared metaphysis, Metaph... |
OMIM:608940 |
| Alveolar Echinococcosis |
|
Jaundice, Anemia, Cholangitis, Liver abscess, Abnormal spleen morphology, Biliary cirrhosis, Port... |
ORPHA:284 |
| Microphthalmia, Syndromic 3 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcep... |
OMIM:206900 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatocellular adenoma, Enlarged kidney, Anemia, Pancreatitis, Hepatomegaly, Increased hepatic gl... |
ORPHA:79259 |
| Vici Syndrome |
|
T lymphocytopenia, Left ventricular hypertrophy, Decreased proportion of CD4-positive helper T ce... |
OMIM:242840 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microcephaly, Abnormal palmar dermatoglyphics, Microphthalmia, Heart murmur |
ORPHA:2728 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cavum septum pellucidum, Sin... |
OMIM:616449 |
| Sweet Syndrome |
|
Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile abscess, Leukocytosis, Neutro... |
ORPHA:3243 |
| Leigh Syndrome |
|
Anemia, Neutropenia |
ORPHA:506 |
| Hyper-Igd Syndrome |
|
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly |
OMIM:260920 |
| Laurence-Moon Syndrome |
|
Bilateral single transverse palmar creases, Hand polydactyly, Finger syndactyly, Brachydactyly |
ORPHA:2377 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Sandal gap, Microcephaly, Holoprosencephaly, 3-4 finger cutaneous syndactyly, Cer... |
OMIM:612530 |
| Kapur-Toriello Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Microphthalmia, Polymicr... |
OMIM:244300 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Congestive heart failure, Microphthalmia, Microcephaly, Upper limb asymmetry, Umbilical hernia |
ORPHA:2505 |
| Warburg Micro Syndrome 3 |
|
Secondary microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5t... |
OMIM:614222 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Anemia, Leukemia, Neutropenia |
ORPHA:221008 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Cirrhosis, Hepatomegaly, Pancytopenia, Cholestasis, Thrombocytopenia, Splenomegaly |
OMIM:614576 |
| Endocrine-Cerebroosteodysplasia |
|
Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Hydrocephalus, Single transve... |
OMIM:612651 |
| Caroli Disease |
|
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... |
ORPHA:53035 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly |
OMIM:235555 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Microphthalmi... |
OMIM:616300 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... |
OMIM:233710 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Syndactyly, Mitte... |
OMIM:609638 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Microcephaly, Postaxial polydactyly |
ORPHA:544254 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
| Monosomy 13Q14 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypopl... |
ORPHA:1587 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Flat acetabular roof, Bowing of the long bones, Micromelia, Postaxi... |
OMIM:614091 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal lymphocyte morphology, Abnormal s... |
ORPHA:293978 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Jaundice, Hepatomegaly, Periportal fibrosis, Ascites, Portal hypertension, Hepatocellular necrosi... |
OMIM:251880 |
| Waardenburg Syndrome Type 1 |
|
Spina bifida, Meningocele |
ORPHA:894 |
| Glycogen Storage Disease Ixc |
|
Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly |
OMIM:613027 |
| Neuroblastoma |
|
Thrombocytopenia, Anemia, Lymphadenopathy, Abdominal mass |
ORPHA:635 |
| Trichothiodystrophy |
|
Umbilical hernia, Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia |
ORPHA:33364 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Jaundice, Thrombocytopenia, Neutropenia |
ORPHA:79282 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Single transverse palmar crease, Microphthalmia, Hypertrophic cardiomyopathy |
OMIM:619053 |
| Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
| Cranioectodermal Dysplasia |
|
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... |
ORPHA:1515 |
| Microphthalmia, Lenz Type |
|
Microphthalmia, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Finger syndactyly, ... |
ORPHA:568 |
| Carney Triad |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Anemia, Ascites |
ORPHA:139411 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatocellular adenoma, Cirrhosis, Anemia, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, ... |
ORPHA:79240 |
| Desbuquois Dysplasia 2 |
|
Monkey wrench femoral neck, Short clavicles, Single transverse palmar crease, Relative macrocepha... |
OMIM:615777 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:391487 |
| Q Fever |
|
Hepatomegaly, Anemia, Lymphadenopathy, Granuloma, Thrombocytopenia, Hepatosplenomegaly, Splenomeg... |
ORPHA:781 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... |
ORPHA:263455 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
| Incontinentia Pigmenti |
|
Congestive heart failure, Microphthalmia, Skin ulcer, Spina bifida occulta, Finger syndactyly, Ab... |
ORPHA:464 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia, Bowing of the long bones, Pulmonary arterial hypertension, ... |
OMIM:614437 |
| Phakomatosis Pigmentokeratotica |
|
Hemiatrophy, Arrhythmia, Raynaud phenomenon, Spina bifida |
ORPHA:2874 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Microcephaly, Broad thumb, Broad hallux, Short ... |
OMIM:600987 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Aqueductal stenosis, Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morpholog... |
ORPHA:1788 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Macrocephaly, Joint contracture of the 5th finger, Single transverse palmar creas... |
OMIM:620098 |
| Fraser Syndrome 1 |
|
Bilateral microphthalmos, Abnormal cortical gyration, Encephalocele, Aplasia/Hypoplasia of the th... |
OMIM:219000 |
| Teebi-Shaltout Syndrome |
|
Rocker bottom foot, Caudal appendage, Microphthalmia, Single transverse palmar crease, Camptodact... |
OMIM:272950 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Thrombocytopenia, Leukopenia, Splenomegaly |
OMIM:222700 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Aorta Coarctation |
|
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... |
ORPHA:1457 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... |
OMIM:233690 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Sandal gap, 3-4 toe syndactyly, Broad hallux, Brachydactyly, Clinodactyly |
OMIM:618727 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphopenia |
OMIM:605309 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
| Hoxha-Aliu Syndrome |
|
Abnormal metaphysis morphology, Contracture of the proximal interphalangeal joint of the 4th fing... |
OMIM:620662 |
| 8P11.2 Deletion Syndrome |
|
Spherocytosis, Splenomegaly, Hemolytic anemia |
ORPHA:251066 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Pulmonic stenosis, Broad... |
OMIM:212780 |
| Sclerosing Cholangitis, Neonatal |
|
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... |
OMIM:617394 |
| Ritscher-Schinzel Syndrome 2 |
|
Clinodactyly of the 5th finger, Dandy-Walker malformation, Prominent fingertip pads, Relative mac... |
OMIM:300963 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Clinodactyly of the 5th finger, Syndactyly |
OMIM:601163 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... |
OMIM:300280 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
| 9Q21.13 Microdeletion Syndrome |
|
Polydactyly, Syringomyelia, Aplasia/Hypoplasia of the corpus callosum, Hip dysplasia |
ORPHA:531151 |
| Whipple Disease |
|
Mediastinal lymphadenopathy, Anemia, Splenomegaly, Hepatomegaly |
ORPHA:3452 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia, Encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, Hypo... |
OMIM:253800 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... |
OMIM:115197 |
| Stromme Syndrome |
|
Preaxial polydactyly, Microphthalmia, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hydro... |
OMIM:243605 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the gallbladder, Anemia, Enlarged polycystic ovaries, Biliary tract neoplasm, Panc... |
ORPHA:2869 |
| White Forelock With Malformations |
|
Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta |
ORPHA:2475 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly, Short palm, Short foot, Small hand |
OMIM:241410 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... |
OMIM:619418 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Branchial cyst, Camptodactyly, Microcephaly, ... |
ORPHA:435938 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Cerebral calcification, Microcephaly, Short palm, Arachnodactyly, Toe syndactyly |
ORPHA:73246 |
| Suleiman-El-Hattab Syndrome |
|
Polydactyly, Single transverse palmar crease, Microcephaly, Brachydactyly, Clinodactyly |
OMIM:618950 |
| Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Microphthalmia, Microcephaly, Vitreous hemorrhage, Retinal neovasculariza... |
ORPHA:891 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping fingers, Adducted thumb, Macrocephaly, Hydrocephalus, Dandy-Walker malformation, Over... |
OMIM:617822 |
| Adenohypophysitis |
|
Pallor, Normochromic anemia |
ORPHA:95512 |
| Porphyria, Congenital Erythropoietic |
|
Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Reduced erythrocyte uropo... |
OMIM:263700 |
| Cranioectodermal Dysplasia 3 |
|
Macrocephaly, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Dry skin, Cutis laxa, Postaxial polydac... |
OMIM:614099 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Anemia, Leukemia, Neutropenia |
ORPHA:221016 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
| Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Leukopenia, Leukocytosis |
ORPHA:36238 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing... |
OMIM:613091 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial polydactyly, Postax... |
ORPHA:404440 |
| Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:252920 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Microphthalmia, Buphthalmos, Encephalocele, Hydrocephalus, Type II lissencephaly, Microcephaly, P... |
OMIM:613150 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly |
ORPHA:77261 |
| Fumarase Deficiency |
|
Polycythemia, Intrahepatic cholestasis, Pallor, Hepatic failure |
OMIM:606812 |
| Schizophrenia 1 |
|
Short proximal phalanx of the 4th toe, Syndactyly |
OMIM:181510 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Erythema, Anophthalmia, Hydrocephalus, Tricuspid regurgitation, Hypertrophic card... |
ORPHA:2556 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Neural tube defect, Clinodactyly |
OMIM:119580 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Gaucher Disease, Type Iiic |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia |
OMIM:231005 |
| Galloway-Mowat Syndrome 3 |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Hypertension, Camptodactyly,... |
OMIM:617729 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Congestive heart failure, Aniridia, Hypertension associated with pheochromocytoma, Sinus tachycar... |
ORPHA:29072 |
| Cohen Syndrome |
|
Microphthalmia, Genu valgum, Cubitus valgus, Abnormal hip bone morphology, Sandal gap, Clinodacty... |
ORPHA:193 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Tet... |
OMIM:192350 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger |
OMIM:167730 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia |
ORPHA:324964 |
| Mend Syndrome |
|
Polydactyly, Redundant neck skin, Hydrocephalus, Dandy-Walker malformation, 2-3 toe syndactyly, A... |
OMIM:300960 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Abnormal metacarpal morphology, Short hallux, Finger syndactyly, Abnormal corpus callosum morphol... |
ORPHA:3224 |
| Typhoid |
|
Hepatomegaly, Splenomegaly |
ORPHA:99745 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Splenomegaly, ... |
OMIM:607765 |
| Acrofacial Dysostosis, Catania Type |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Spina bifida occulta,... |
ORPHA:1786 |
| Severe Hemophilia A |
|
Anemia |
ORPHA:169802 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia |
OMIM:175500 |
| Niemann-Pick Disease, Type C2 |
|
Sea-blue histiocytosis, Jaundice, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi... |
OMIM:607625 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Selective Igm Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... |
ORPHA:331235 |
| Mend Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Hydrocephalus, Dandy-Walker malformation, 2-3 ... |
ORPHA:401973 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Yunis-Varon Syndrome |
|
Rocker bottom foot, Redundant neck skin, Microphthalmia, Abnormal finger morphology, Hypertension... |
ORPHA:3472 |
| Senior-Boichis Syndrome |
|
Cirrhosis, Anemia, Cholestasis, Ascites, Portal hypertension, Hepatosplenomegaly, Congenital hepa... |
ORPHA:84081 |
| Multiple Myeloma |
|
Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:29073 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap |
OMIM:615761 |
| Aarskog-Scott Syndrome |
|
Congestive heart failure, Clinodactyly of the 5th finger, Finger syndactyly, Single transverse pa... |
ORPHA:915 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb... |
ORPHA:3186 |
| Joubert Syndrome 2 |
|
Microphthalmia, Macrocephaly, Encephalocele, Hydrocephalus, Abnormal corpus callosum morphology, ... |
OMIM:608091 |
| Fanconi Anemia, Complementation Group F |
|
Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Anemia |
OMIM:603467 |
| Hatipoglu Immunodeficiency Syndrome |
|
Anemia, Pancytopenia |
OMIM:620331 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... |
ORPHA:276621 |
| Acrootoocular Syndrome |
|
Short finger, Sandal gap, Short metacarpal, Small thenar eminence, Microcephaly, Prominent calcan... |
ORPHA:2980 |
| Osteootohepatoenteric Syndrome |
|
Portal fibrosis, Anemia, Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal jaundi... |
OMIM:619377 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:619051 |
| 22Q11.2 Deletion Syndrome |
|
Purpura, Gastrointestinal hemorrhage, Corneal neovascularization, Microphthalmia, Meningocele, Hy... |
ORPHA:567 |
| Joubert Syndrome 21 |
|
Hypoplasia of the corpus callosum, Occipital encephalocele, Encephalocele, Anophthalmia, Hypoplas... |
OMIM:615636 |
| Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
| Rubinstein-Taybi Syndrome 1 |
|
Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Prominent fingert... |
OMIM:180849 |
| Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Right ventricular hypertrophy, Umbilical hernia, Hypersplenism |
OMIM:616028 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microcephaly, Microphthalmia, Clinodactyly of the 5th finger, Bilateral microphthalmos |
ORPHA:2399 |
| Cockayne Syndrome Type 1 |
|
Hypertension, Basal ganglia calcification, Anophthalmia |
ORPHA:90321 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Hepatitis, Hypersplenism |
OMIM:613385 |
| Mulibrey Nanism |
|
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Anemia, Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Lymphopenia, Cryptorchidism |
OMIM:620005 |
| Panhypophysitis |
|
Pallor, Normochromic anemia |
ORPHA:95513 |
| Bardet-Biedl Syndrome 6 |
|
Postaxial polydactyly, Syndactyly |
OMIM:605231 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Pulmonary arterial hypertension, Mi... |
ORPHA:65286 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Anemia |
OMIM:226600 |
| Legionnaires Disease |
|
Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, ... |
ORPHA:549 |
| Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut... |
OMIM:614162 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Ascites, Splenomegaly, Cardiomegaly |
OMIM:235200 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis |
OMIM:212140 |
| Senior-Loken Syndrome 1 |
|
Anemia |
OMIM:266900 |
| Budd-Chiari Syndrome |
|
Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole... |
ORPHA:131 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Scaling skin, Microphthalmia, Skin ulcer, Anophthalmia, Dry skin, Microcephaly |
ORPHA:2526 |
| Lymphatic Malformation 7 |
|
Anemia, Ascites |
OMIM:617300 |
| Fraser Syndrome |
|
Microphthalmia, Encephalocele, Anophthalmia, Finger syndactyly, Myelomeningocele, Microcephaly, W... |
ORPHA:2052 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... |
ORPHA:3320 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Abnormality of the hand, Bilateral microphthalmos, Camptodactyly, Syndactyly, Umbilical hernia, C... |
ORPHA:369891 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Splenomegaly, Umbilical hernia |
OMIM:252900 |
| Gm1-Gangliosidosis, Type I |
|
Vacuolated lymphocytes, Hepatomegaly, Splenomegaly |
OMIM:230500 |
| Tangier Disease |
|
Hepatomegaly, Splenomegaly, Left ventricular hypertrophy |
OMIM:205400 |
| Pagod Syndrome |
|
Encephalocele, Meningocele, Spina bifida, Microcephaly, Arrhythmia, Sudden cardiac death |
ORPHA:991 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Microcephaly, Cerebellar hypoplasia, Clinodactyly, Syndactyly |
OMIM:618087 |
| Incontinentia Pigmenti |
|
Microphthalmia, Retinal hemorrhage, Microcephaly, Hypoplasia of the fovea, Pallor, Erythema |
OMIM:308300 |
| Aicardi-Goutieres Syndrome 1 |
|
Prolonged neonatal jaundice, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:225750 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Redundant neck skin, Proximal placement of thumb, Cardiomyopathy, Microcephaly, Short palm, Synda... |
OMIM:217980 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... |
ORPHA:166119 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Dandy-Walker malformation, Microcephaly, Long ... |
OMIM:156610 |
| Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Corneal neovascularization, Aniridia, Hypoplastic iris stroma, Hypoplas... |
ORPHA:2334 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Pelvic mass, Neoplasm of the pancreas, Anemia, Jaundice, Pancreatitis, Ascites |
ORPHA:370348 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Redundant neck skin, Rhizomelic leg shortening, Early ossification of ca... |
ORPHA:397715 |
| Oculodentodigital Dysplasia |
|
Microphthalmia, Cubitus valgus, Joint contracture of the 5th finger, 4-5 finger syndactyly, Short... |
OMIM:164200 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
2-4 toe cutaneous syndactyly, Microphthalmia, 4-5 finger syndactyly, Broad long bones, Fifth fing... |
OMIM:257850 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Coronary Arterial Fistula |
|
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... |
ORPHA:2041 |
| Infantile Liver Failure Syndrome 3 |
|
Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic steatosis |
OMIM:618641 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Coombs-positive hemoly... |
ORPHA:83471 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic... |
ORPHA:96334 |
| Nance-Horan Syndrome |
|
Broad finger, Short phalanx of finger, Microphthalmia |
OMIM:302350 |
| Congenital Syphilis |
|
Large placenta, Anemia, Pancreatitis, Lymphadenopathy, Prolonged neonatal jaundice, Thrombocytope... |
ORPHA:499009 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the corpus callosum, Microphthalmia, Hydrocephalus, Dandy-Walker malformation, Cort... |
OMIM:613001 |
| ERI1-related disease |
|
Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Oligodactyly, Tr... |
OMIM:608739 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Anisopoikilocytosis, Anemia |
OMIM:615789 |
| Gm1-Gangliosidosis, Type Ii |
|
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly |
OMIM:230600 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... |
ORPHA:3429 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Macrocephaly, Genu valgum, Hydrocephalus, Hypertension, Spina bifida, Tibial... |
OMIM:162200 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypochromic anemia, Hepatomegaly, Leukocytosis, Splenomegaly |
ORPHA:289157 |
| Charge Syndrome |
|
Polydactyly, Aqueductal stenosis, Microphthalmia, Abnormal tibia morphology, Clinodactyly of the ... |
ORPHA:138 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Rhizomelia, Epiphyseal stippling, Dandy-Walker malformation, Stippled calcificati... |
OMIM:302960 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Agenesis of cerebellar vermis, Agenesis of corpus callosum |
ORPHA:228390 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
OMIM:612387 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Deviation of the thumb, Short hallux, Hydrocephalus, Finger syndactyly, Broa... |
ORPHA:93259 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypoplasia of the corpus callosum, Macrocephaly, Dural ectasia, Hydrocephalus, Prominent fingerti... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hypoplasia of the corpus callosum, Macrocephaly, Dural ectasia, Hydrocephalus, Prominent fingerti... |
ORPHA:363958 |
| Hermansky-Pudlak Syndrome |
|
Abnormality of thrombocytes, Neutropenia |
ORPHA:79430 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Ascites, Lymphadenitis, Granuloma, ... |
OMIM:306400 |
| Tarp Syndrome |
|
Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Cerebellar vermis hypoplasia, S... |
OMIM:311900 |
| Pituitary Apoplexy |
|
Pallor, Normochromic anemia |
ORPHA:95613 |
| 2Q37 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Macrocephaly, Clinodactyly of the 5th finger, Finger ... |
ORPHA:1001 |
| Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis, Splenomegaly, Abnormality of the liver |
ORPHA:91138 |
| Gastrointestinal Stromal Tumor |
|
Abnormality of the liver, Anemia |
ORPHA:44890 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat... |
OMIM:613812 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Jaundice, Hepatomegaly, Portal hypertension, Polycythemia, Copper accumulation in liver, Splenome... |
ORPHA:309854 |
| 19P13.12 Microdeletion Syndrome |
|
Hypoplasia of the corpus callosum, Deep palmar crease, Aortic regurgitation, Sandal gap, Clinodac... |
ORPHA:254346 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85450 |
| Otopalatodigital Syndrome Type 2 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Encepha... |
ORPHA:90652 |
| Pfeiffer Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Symph... |
ORPHA:710 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Chronic pancreatitis, Hepatocellular carcinoma, Hepatoblastoma, Cyclic neutropenia |
OMIM:232240 |
| Galloway-Mowat Syndrome 1 |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Microphthalmia, Dand... |
OMIM:251300 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Jaundice, Anemia, Hepatomegaly, Increased B cell count, Cholestasis, Leukocytosis, Increased T ce... |
OMIM:620376 |
| Pachydermoperiostosis |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:2796 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Hypoplasia of the olfactory bulb, Anophthalmia |
ORPHA:2250 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... |
ORPHA:439 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatosplenomegaly, Anemia |
ORPHA:85408 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, M... |
OMIM:614701 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Peritonitis |
OMIM:249100 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the toes, Absent t... |
ORPHA:1234 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... |
ORPHA:2256 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Decreased response to growth hormone stimulation test, Abnormal T cell count, Absent circulating ... |
OMIM:307200 |
| Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly |
ORPHA:33577 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Biparietal narrowi... |
ORPHA:1005 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Silver-Russell Syndrome 3 |
|
Relative macrocephaly, Clinodactyly of the 5th finger, Syndactyly, Small hand |
OMIM:616489 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Neutropenia |
OMIM:617799 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macrocephaly, Polymicrogyria, Unilateral microphthalmos, Microcephaly, Adducted thumb |
OMIM:618874 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris |
OMIM:604229 |
| Orofaciodigital Syndrome Type 6 |
|
Preaxial polydactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Biparietal narrowing, ... |
ORPHA:2754 |
| Doors Syndrome |
|
Thrombocytosis, Sirenomelia, Spina bifida occulta |
ORPHA:79500 |
| 8Q22.1 Microdeletion Syndrome |
|
Sandal gap, Finger syndactyly, Microcephaly, Camptodactyly of finger, Lack of skin elasticity |
ORPHA:178303 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Microcephaly, Holoprose... |
ORPHA:2166 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty... |
ORPHA:3258 |
| Conotruncal Heart Malformations |
|
Postaxial polydactyly, Broad hallux |
OMIM:217095 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Bilateral single transverse palmar creases, Microphthalmia, Microcephaly, Broad thumb, Camptodact... |
ORPHA:1236 |
| 19Q13.11 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Dry skin, Congenital hip dislocation, Microcep... |
ORPHA:217346 |
| Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Finger syndactyly, Congenital hip dislo... |
ORPHA:1647 |
| Zygomycosis |
|
Mediastinal lymphadenopathy, Pancreatitis, Splenic abscess, Brain abscess, Peritonitis, Hepatitis... |
ORPHA:73263 |
| Klippel-Trenaunay-Weber Syndrome |
|
Macrodactyly, Hand polydactyly, Syndactyly, Finger aplasia |
OMIM:149000 |
| Microphthalmia, Syndromic 9 |
|
Pulmonic stenosis, Bilateral microphthalmos, Anophthalmia |
OMIM:601186 |
| Holt-Oram Syndrome |
|
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Small thenar eminence, Pulmo... |
OMIM:142900 |
| Oliver Syndrome |
|
Clinodactyly of the 5th finger, Prominent fingertip pads, Postaxial hand polydactyly, Elbow flexi... |
ORPHA:2920 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Microphthalmia, Buphthalmos, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Microcephaly, ... |
OMIM:253280 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Juvenile Polyposis Syndrome |
|
Anemia |
OMIM:174900 |
| Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
| Polysyndactyly With Cardiac Malformation |
|
Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly |
OMIM:263630 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Epiphyseal stippling, Apl... |
OMIM:308050 |
| Scrub Typhus |
|
Lymphadenopathy, Splenomegaly |
ORPHA:83317 |
| Frontofacionasal Dysplasia |
|
Hypoplasia of the corpus callosum, Microphthalmia, Encephalocele, Hypoplasia of olfactory tract |
ORPHA:1791 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of finger, Absen... |
ORPHA:284160 |
| Bohring-Opitz Syndrome |
|
Hypoplasia of the corpus callosum, Deep palmar crease, Dislocated radial head, Dandy-Walker malfo... |
OMIM:605039 |
| Joubert Syndrome 39 |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Postaxial polydactyly, Joint contracture o... |
OMIM:619562 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Microcephaly, Finger syndactyly, Pachygyria, Hypoplasia of the corpus callosum |
ORPHA:66629 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microcephaly, Microphthalmia, Simplified gyral pattern |
OMIM:152950 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatic steatosis, Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration |
ORPHA:348 |
| Sheehan Syndrome |
|
Pallor, Dry skin, Normochromic anemia |
ORPHA:91355 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Pulmonic stenosis, Syndactyly |
OMIM:220210 |
| Timothy Syndrome |
|
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot |
OMIM:601005 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Macrocephaly, Spina bifida occulta, Meningocele, Finger syndactyly, Microcephaly, Camptodactyly o... |
ORPHA:2311 |
| Scheie Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:93474 |
| Camurati-Engelmann Disease |
|
Bone marrow hypocellularity, Anemia |
OMIM:131300 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hypoplasia of the corpus callosum, Preaxial polydactyly, Anencephaly, Cerebellar vermis hypoplasi... |
OMIM:616546 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscular hemoglobin... |
ORPHA:90041 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... |
OMIM:620642 |
| Warburg Micro Syndrome 4 |
|
Hypoplasia of the corpus callosum, Secondary microcephaly, Microphthalmia, Cerebral cortical atro... |
OMIM:615663 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Split hand, Brachydactyly, Micromelia |
ORPHA:2145 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Hypoplasia of the corpus callosum, Occipital encephalocele, Microphthalmia, Buphthalmos, Hydrocep... |
OMIM:236670 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Agenesis o... |
OMIM:300952 |
| Dyskeratosis Congenita, Digenic |
|
Anemia |
OMIM:620040 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Pallor, Hepatomegaly, Anemia, Splenomegaly |
ORPHA:667 |
| Waardenburg Syndrome, Type 1 |
|
Hypoplastic iris stroma, Myelomeningocele, Spina bifida |
OMIM:193500 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Tethered cord, Dermal sinus tract, Myelome... |
OMIM:600145 |
| Fanconi Anemia, Complementation Group N |
|
Hypoplasia of the radius, Microphthalmia, Microcephaly, Absent thumb, Short thumb |
OMIM:610832 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Filippi Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Clinodactyly of the 5th ... |
ORPHA:3255 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Sandal gap, Single transverse palmar crease, Micromelia, Cutis laxa, Broad hallux, Syndactyly, Br... |
OMIM:614800 |
| Orofaciodigital Syndrome I |
|
Cerebral atrophy, Polydactyly, Abnormal cortical gyration, Radial deviation of finger, Hydrocepha... |
OMIM:311200 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Anemia |
OMIM:620358 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Short metacarpal, Camptodactyly, Syndactyly, A... |
OMIM:614230 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Dysplastic corpus callosum, Diaphyseal undertubulation, Spina bifida occulta, Flared metaphysis, ... |
OMIM:151050 |
| Atelis Syndrome 2 |
|
Microphthalmia, Single transverse palmar crease, Supravalvar pulmonary stenosis, Microcephaly, Pu... |
OMIM:620185 |
| Tyrosinemia, Type I |
|
Enlarged kidney, Cirrhosis, Anemia, Hepatomegaly, Hepatocellular carcinoma, Ascites, Splenomegaly... |
OMIM:276700 |
| Rere-Related Neurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Hip dysplasia, Microphthalmia, Hypoplasia of the corpus callosum |
ORPHA:494344 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle |
OMIM:239850 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia, T lymphocytopenia |
OMIM:251260 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... |
OMIM:607626 |
| Kbg Syndrome |
|
Microcephaly, Single transverse palmar crease, Cutaneous syndactyly, Finger clinodactyly |
ORPHA:2332 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, Hypoparathyroidism, Abnormal B cell morpho... |
OMIM:618223 |
| Lethal Acantholytic Erosive Disorder |
|
Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Hypovolemic shock, Camptod... |
ORPHA:158687 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic nerve hypoplasia, Abnormal periventricular white matter morphology, Microcephaly, Olivopont... |
ORPHA:468631 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Scaling skin, Microphthalmia, Epiphyseal stippling, Neonatal epiphyseal stippling, Upper limb asy... |
ORPHA:35173 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Cholestasis, Biliary cirrhosis... |
OMIM:208540 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Abnormal hip bone morphology, Finger syndactyly, Synostosis of carpal bones, Biparietal narrowing... |
ORPHA:1323 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Microphthalmia, Retinal neovascularization |
OMIM:193220 |
| Miller-Dieker Lissencephaly Syndrome |
|
Hypoplasia of the corpus callosum, Polydactyly, Deep palmar crease, Clinodactyly of the 5th finge... |
OMIM:247200 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Hydrocephalus, Aplasia/Hypoplasia involving the pelvis, Septo-optic dysplasia, Ag... |
ORPHA:3301 |
| Fg Syndrome Type 1 |
|
Abnormal thumb morphology, Macrocephaly, Clinodactyly of the 2nd finger, Hydrocephalus, Optic ner... |
ORPHA:93932 |
| Fetal Alcohol Syndrome |
|
Microcephaly, Microphthalmia, Biparietal narrowing |
ORPHA:1915 |
| Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Genu valgum, Limb undergrowth |
OMIM:619142 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Rubinstein-Taybi Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Abnormal distal phalanx morpholo... |
ORPHA:783 |
| Acrocardiofacial Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Split hand, Cerebral cortical atrophy, Split f... |
ORPHA:2008 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Microcytic anemia, T lymphocytopenia |
ORPHA:2959 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly |
ORPHA:3035 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Microphthalmia, Anophthalmia, Unilateral microphthalmos, Absent tibia, Ha... |
OMIM:214800 |
| Primary Hyperoxaluria Type 1 |
|
Anemia |
ORPHA:93598 |
| Apert Syndrome |
|
Limited elbow movement, Megalencephaly, Delayed epiphyseal ossification, Hydrocephalus, Finger sy... |
OMIM:101200 |
| Tukel Syndrome |
|
Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia |
OMIM:609428 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Large placenta, Radial deviation of finger, Microphthalmia, Anencephaly,... |
OMIM:249000 |
| Autoimmune Hepatitis |
|
Cirrhosis, Jaundice, Sclerosing cholangitis, Acute hepatitis, Fulminant hepatitis, Hepatocellular... |
ORPHA:2137 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Anemia, Leukocytosis, Neutrophilia, Umbilical hernia, Microcytic anemia |
ORPHA:99843 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb... |
OMIM:184705 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Neutropenia |
OMIM:617248 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Anemia, Pancytopenia, Hepatitis, Thrombocytopenia, Splenomegaly, Generalized lympha... |
OMIM:615846 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
| Stevens-Johnson Syndrome |
|
Thrombocytopenia, Abnormality of neutrophils, Anemia, Pancreatitis |
ORPHA:36426 |
| Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased proportion o... |
OMIM:208900 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... |
ORPHA:83461 |
| Von Hippel-Lindau Syndrome |
|
Hepatic hemangioma, Polycythemia, Neoplasm of the pancreas, Pancreatic cysts |
OMIM:193300 |
| Dyskeratosis Congenita |
|
Cirrhosis, Neoplasm of the pancreas, Anemia, Hepatomegaly, Bone marrow hypocellularity, Thrombocy... |
ORPHA:1775 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia |
OMIM:313900 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro... |
ORPHA:324410 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Anemia, Pancreatic aplasia |
OMIM:609069 |
| Rat-Bite Fever |
|
Abdominal aseptic abscess, Pancreatitis, Anemia, Lymphadenitis |
ORPHA:31205 |
| Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Hydrocephalus, Foot polydactyly, Short palm, Agenesis of corpus callosum |
ORPHA:268249 |
| Opitz-Kaveggia Syndrome |
|
Postnatal macrocephaly, Radial deviation of finger, Hydrocephalus, Single transverse palmar creas... |
OMIM:305450 |
| Renal Nutcracker Syndrome |
|
Anemia |
ORPHA:71273 |
| Micro Syndrome |
|
Microphthalmia, Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Pachygyria... |
ORPHA:2510 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Hypoplasia of the corpus callosum, Rocker bottom foot, Abnormal cortical gyration, Progressive mi... |
OMIM:617527 |
| Myhre Syndrome |
|
Short finger, Microphthalmia, Radial deviation of finger, Macrocephaly, Hypoplastic iliac wing, 2... |
OMIM:139210 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Enlarged metaphyses, Hypertension, Femoral bowing, Bifid first metacarpal, Short metacarpal, Micr... |
OMIM:210710 |
| Degcags Syndrome |
|
Polydactyly, Microphthalmia, Genu valgum, Talipes equinovarus, Pulmonary arterial hypertension, M... |
OMIM:619488 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microcephaly, Microphthalmia, Cerebral cortical atrophy, Partial agenesis of the corpus callosum |
OMIM:234050 |
| Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Macrocephaly, Abnormality of the medullary cavity of the long bones, Basal gangli... |
OMIM:127000 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Brachydactyly, Agene... |
ORPHA:306542 |
| Monosomy 9Q22.3 |
|
Polydactyly, Microphthalmia, Macrocephaly, Palmar pits, Hydrocephalus, Calcification of falx cere... |
ORPHA:77301 |
| Lysosomal Acid Lipase Deficiency |
|
Jaundice, Anemia, Vacuolated lymphocytes, Bone-marrow foam cells, Microvesicular hepatic steatosi... |
ORPHA:275761 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microcephaly, Corneal neovascularization, Microphthalmia, Telangiectasia |
OMIM:278730 |
| Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cutaneous syndactyly, Dry skin |
ORPHA:2890 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Polycythemia, Pallor, Pancreatic cysts |
ORPHA:892 |
| Aarskog-Scott Syndrome |
|
Radial deviation of finger, Hyperextensibility of the finger joints, Single transverse palmar cre... |
OMIM:305400 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Anemia |
ORPHA:230 |
| Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia, Macrocephaly, Slender long bone, Tibial bowing, Osteolytic defects of the distal ... |
OMIM:601812 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Silver-Russell Syndrome 1 |
|
Short distal phalanx of the 5th finger, Short middle phalanx of the 5th finger, Clinodactyly of t... |
OMIM:180860 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia, Junctional ectopic tachycardia, Hydrocephalus, Histiocytoid cardiomyopathy, Singl... |
OMIM:309801 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Bardet-Biedl Syndrome 1 |
|
Radial deviation of finger, Macrocephaly, Hypertension, Postaxial hand polydactyly, Foot polydact... |
OMIM:209900 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Anemia |
OMIM:174000 |
| Down Syndrome |
|
Leukemia, Abnormality of the lymphatic system, Polycythemia, Neutrophilia, Thrombocytopenia, Umbi... |
ORPHA:870 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Short 4th metacarpal, Spina bifida occulta, Small hand |
ORPHA:1787 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Thin corpus callosum, Tethered cord, Tapered finger, Spina bifida, Partial agenesis of the corpus... |
OMIM:619480 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pancreatitis, Leukocytosis, Thrombocytopenia, Pallor, Hemolytic anemia |
ORPHA:544482 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Short distal phalanx of finger, Toe syndactyly, Aplasia/Hypoplasia of the corp... |
ORPHA:1512 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Cantú Syndrome |
|
Abnormal metaphysis morphology, Macrocephaly, Short hallux, Finger syndactyly, Hypertrophic cardi... |
ORPHA:1517 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Redundant skin |
ORPHA:1252 |
| Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Macrocephaly, Long fingers, Overlapping toe, Long toe, Cutaneous syndactyly, Overlapping fingers |
OMIM:618316 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Overlapping toe, Microphthalmia, Inferior cerebellar vermis hypoplasia |
OMIM:618571 |
| Kury-Isidor Syndrome |
|
Rocker bottom foot, Proximal placement of thumb, Finger syndactyly, Brachydactyly, Hip dysplasia,... |
OMIM:619762 |
| Adnp Syndrome |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Polydactyly, Focal white matter lesions, San... |
ORPHA:404448 |
| Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Enlarged kidney, Chronic neutropenia, Transient neutropenia, Spina bifida occulta |
ORPHA:500095 |
| Jacobsen Syndrome |
|
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Hydrocephalus, Microcephaly, Holopr... |
OMIM:147791 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Hepatomegaly |
ORPHA:42 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Ring Chromosome 12 Syndrome |
|
Abnormal 5th finger morphology, Microcephaly, Symphalangism of the thumb, Syndactyly, Clinodactyly |
ORPHA:1439 |
| Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis, Short hallux, Finger syndactyly, Broad thumb, Hallux varus, Broad hallux pha... |
ORPHA:93260 |
| Proboscis Lateralis |
|
Microphthalmia, Macrocephaly, Anophthalmia, Optic nerve hypoplasia, Abnormal corpus callosum morp... |
ORPHA:141099 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Vacuolated lymphocytes, Hepatomegaly, Pancreatitis, Splenomegaly |
ORPHA:565612 |
| 3C Syndrome |
|
Macrocephaly, Abnormal hip bone morphology, Hydrocephalus, Dandy-Walker malformation, Finger synd... |
ORPHA:7 |
| Branchiooculofacial Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Proximal placement of thumb, Anophthalmia, Branch... |
OMIM:113620 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... |
OMIM:306955 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Encephalocele, Finger syndactyly, Polymicrogyria, Broad thumb, Broad ... |
ORPHA:2211 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer ce... |
ORPHA:221139 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
| Chromosome 13Q14 Deletion Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, Single transve... |
OMIM:613884 |
| Oculodentodigital Dysplasia |
|
Abnormal metaphysis morphology, Palmoplantar keratoderma, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:2710 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Retinal neovascularization |
OMIM:305390 |
| Cri-Du-Chat Syndrome |
|
Short metatarsal, Single transverse palmar crease, High axial triradius, Short metacarpal, Microc... |
OMIM:123450 |
| Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... |
ORPHA:3427 |
| Bardet-Biedl Syndrome 12 |
|
Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:615989 |
| Anterior Segment Dysgenesis 2 |
|
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia |
OMIM:610256 |
| Mucopolysaccharidosis Type 7 |
|
Ascites, Hepatitis, Splenomegaly, Umbilical hernia |
ORPHA:584 |
| Cerebrofacioarticular Syndrome |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Caudal appendage, Cerebellar vermi... |
ORPHA:314679 |
| Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Polymicrogyria, Microphthalmia, Pachygyria |
ORPHA:2328 |
| Frontonasal Dysplasia 2 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Encephalocele, Cerebellar vermis hypoplasia, M... |
OMIM:613451 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Broad thumb, Mesome... |
OMIM:268310 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Acromelic Frontonasal Dysostosis |
|
Hypoplasia of the corpus callosum, Patellar hypoplasia, Encephalocele, Cavum septum pellucidum, T... |
OMIM:603671 |
| Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Cerebral calcification, Dandy-Walker malformation, Porencephalic cyst, Biparietal... |
ORPHA:2612 |
| Hydrolethalus Syndrome 1 |
|
Microphthalmia, Abnormal cortical gyration, Anencephaly, Talipes equinovarus, Upper limb undergro... |
OMIM:236680 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Microcephaly, Aplasia of the distal... |
ORPHA:364577 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Histiocytosis, Hepatosplenomegaly, Splenome... |
OMIM:602782 |
| Hepatoerythropoietic Porphyria |
|
Erythroid hyperplasia, Splenomegaly, Hemolytic anemia |
ORPHA:95159 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypoplasia of the corpus callosum, Polydactyly, Clinodactyly of the 5th finger, Aortic regurgitat... |
ORPHA:464306 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Hydrocephalus, Optic nerve hyp... |
ORPHA:457284 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Poland Syndrome |
|
Finger symphalangism, Abnormality of the hand, Aplasia of the pectoralis major muscle, Spina bifi... |
ORPHA:2911 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly |
OMIM:201100 |
| Orofaciodigital Syndrome V |
|
Sandal gap, Postaxial hand polydactyly, Microcephaly, Postaxial polydactyly, Agenesis of corpus c... |
OMIM:174300 |
| Aspartylglucosaminuria |
|
Vacuolated lymphocytes, Hepatomegaly, Neutropenia |
OMIM:208400 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Anemia |
OMIM:175050 |
| Holoprosencephaly 7 |
|
Semilobar holoprosencephaly, Microphthalmia, Macrocephaly, Bilateral microphthalmos, Alobar holop... |
OMIM:610828 |
| Pierson Syndrome |
|
Microphthalmia, Hypoplasia of the ciliary body, Progressive microcephaly, Hypertension, Retinal h... |
OMIM:609049 |
| Trichothiodystrophy 1, Photosensitive |
|
Microcephaly, Microphthalmia, Dry skin, Telangiectasia |
OMIM:601675 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:391428 |
| Reynolds Syndrome |
|
Jaundice, Hepatomegaly, Cholestasis, Biliary cirrhosis, Splenomegaly, Lymphopenia |
OMIM:613471 |
| Hyperlipoproteinemia, Type I |
|
Acute pancreatitis, Jaundice, Hepatosplenomegaly, Splenomegaly |
OMIM:238600 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocytope... |
OMIM:619381 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Ascites, Thrombocytopenia, Splenomegaly, Micronodular cirrhosis |
OMIM:301072 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Parenteral Nutrition-Associated Cholestasis |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple... |
ORPHA:567983 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis |
OMIM:615947 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy... |
OMIM:263200 |
| Ohdo Syndrome, X-Linked |
|
Microphthalmia, Ulnar deviation of the hand, Short thumb, Hip dysplasia, Overlapping toe, Clinoda... |
OMIM:300895 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Microphthalmia, Syndromic 1 |
|
Microphthalmia, Radial deviation of finger, Anophthalmia, Short clavicles, Prominent fingertip pa... |
OMIM:309800 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten... |
OMIM:610199 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Hypoplasia of the pons, Intraventricular hemorrhage, Cerebral atrophy, Syndactyly |
OMIM:616430 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy |
OMIM:616897 |
| Bartsocas-Papas Syndrome 1 |
|
Microphthalmia, Ulnar bowing, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Dry skin, S... |
OMIM:263650 |
| Cockayne Syndrome B |
|
Cerebral atrophy, Normal pressure hydrocephalus, Square pelvis bone, Microphthalmia, Hypoplastic ... |
OMIM:133540 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Enlarged kidney, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Ascites, Portal hyperte... |
ORPHA:731 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger |
ORPHA:246 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microcephaly, Microphthalmia, Basal ganglia calcification |
OMIM:610651 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
2-3 toe cutaneous syndactyly, Prolonged QT interval, Optic nerve hypoplasia, Pulmonary arterial h... |
OMIM:620029 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Anemia, Cholelithiasis, Pancytopenia, Hepatosplenomegaly, Abnormality of the spleen, Splenomegaly... |
ORPHA:2072 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... |
ORPHA:57777 |
| Camurati-Engelmann Disease |
|
Anemia, Hepatomegaly, Leukopenia, Splenomegaly |
ORPHA:1328 |
| Isolated Biliary Atresia |
|
Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr... |
ORPHA:30391 |
| Familial Tumoral Calcinosis |
|
Hepatomegaly, Splenomegaly |
ORPHA:53715 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Skin ulcer |
ORPHA:1806 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Anemia, Bile duct proliferation, Prolonged neonatal jaundice, Thrombocytopenia, Spl... |
OMIM:619525 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Microphthalmia |
OMIM:301108 |
| Pseudoaminopterin Syndrome |
|
Clinodactyly of the 5th toe, Limited elbow movement, Macrocephaly, Short 4th metacarpal, Hip subl... |
ORPHA:221120 |
| Lathosterolosis |
|
Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology |
ORPHA:46059 |
| Grange Syndrome |
|
Renovascular hypertension, Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Neutropenia |
ORPHA:95455 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Cerebral atrophy, Redundant neck skin, Macrocephaly, Radial deviation of finger, Sandal gap, Teth... |
OMIM:618164 |
| Hallermann-Streiff Syndrome |
|
Congestive heart failure, Microphthalmia, Clinodactyly of the 5th finger, Microcephaly, Cerebella... |
ORPHA:2108 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Aortic regurgitation, Dandy-Walker malformation, ... |
ORPHA:1052 |
| Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Acetabular dysplasia, Short metacarpal, Broad thumb, Short distal phalanx of finger |
OMIM:201180 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, 2-3 toe syndac... |
OMIM:616734 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Jaundice, Anemia, Hepatomegaly, Cholestasis, Hepatosplenomegaly, Hepatic steatosis |
ORPHA:247598 |
| Wilson Disease |
|
Cirrhosis, Jaundice, Portal fibrosis, Anemia, Hepatomegaly, Hepatocellular carcinoma, Ascites, At... |
OMIM:277900 |
| Momo Syndrome |
|
Bilateral microphthalmos, Macrocephaly, Femoral bowing, Short sternum, Large hands, Congenital ps... |
ORPHA:2563 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Lymphadenopathy, Leukocytosis, Splenomegaly, Peritonitis |
ORPHA:32960 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe... |
ORPHA:1112 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hypoplasia of the corpus callosum, Abnormal cortical gyration, Small hand, Dandy-Walker malformat... |
OMIM:300968 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, Thrombocytopenia, Splenome... |
ORPHA:77293 |
| Gaucher Disease |
|
Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Splenic infarction, Splenic ruptur... |
ORPHA:355 |
| X Small Rings |
|
Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syndactyly, Mitral stenosis, Lowe... |
ORPHA:96201 |
| Danon Disease |
|
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... |
OMIM:300257 |
| Complete Atrioventricular Septal Defect |
|
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... |
ORPHA:1329 |
| Kinsship Syndrome |
|
Polydactyly, Fibular hypoplasia, Dislocated radial head, Dandy-Walker malformation, Single transv... |
OMIM:619297 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Cardiac conduction abnormality, Arrhythmia, Pallor, Abnormal T-wave |
ORPHA:2131 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Secondary microcephaly, Thin corpus callosum, Cavum septum pellucidum, Cerebellar vermis hypoplas... |
OMIM:620654 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hydrocephalus, Finger syndactyly, Hypertension, Micromelia, Broa... |
ORPHA:87 |
| Larsen Syndrome |
|
Broad distal phalanx of finger, Finger syndactyly, Abnormal epiphysis morphology, Broad thumb, Br... |
ORPHA:503 |
| Alg12-Cdg |
|
B lymphocytopenia, Cryptorchidism, Thrombocytopenia |
ORPHA:79324 |
| Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... |
ORPHA:363705 |
| Hamamy Syndrome |
|
Clinodactyly of the 5th finger, Short 2nd finger, Long fingers, Down-sloping shoulders, Syndactyl... |
OMIM:611174 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
| Fryns Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Dandy-Walker malformation, Cerebral cortical atro... |
ORPHA:2059 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Orofaciodigital Syndrome Type 1 |
|
Tarsal synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Dandy-Walker malformation, ... |
ORPHA:2750 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Microphthalmia, Hypoplast... |
OMIM:617925 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypoplasia of the corpus callosum, Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, ... |
OMIM:616975 |
| Adult Syndrome |
|
Skin ulcer, Finger syndactyly, Dry skin, Split foot, Toe syndactyly |
ORPHA:978 |
| Neurocardiofaciodigital Syndrome |
|
Hypoplasia of the corpus callosum, Polydactyly, Cavum septum pellucidum, Cerebellar vermis hypopl... |
OMIM:619869 |
| Familial Mediterranean Fever |
|
Pancreatitis, Lymphadenopathy, Ascites, Leukocytosis, Splenomegaly, Peritonitis |
ORPHA:342 |
| Constricting Bands, Congenital |
|
Talipes equinovarus, Hand polydactyly, Syndactyly, Encephalocele |
OMIM:217100 |
| Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Hydrocephalus, Bilateral talipes equinovarus, Absent thumb, Absent radius, Cerebe... |
OMIM:614083 |
| Tarp Syndrome |
|
Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Abnormal corpus callosum ... |
ORPHA:2886 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, T lymphocytopenia, Decreased proportion of CD4-posi... |
ORPHA:508533 |
| Persistent Hyperplastic Primary Vitreous |
|
Microphthalmia, Buphthalmos, Phthisis bulbi, Macular hypoplasia, Hemorrhage of the eye |
ORPHA:91495 |
| Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
| Neutral Lipid Storage Disease With Myopathy |
|
Chronic pancreatitis, Hepatomegaly, Hepatic steatosis, Splenomegaly |
OMIM:610717 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Postaxial polydactyly |
OMIM:219730 |
| Bloom Syndrome |
|
Facial erythema, Clinodactyly of the 5th finger, Microcephaly, Facial telangiectasia in butterfly... |
OMIM:210900 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... |
OMIM:601214 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema, Phthisis bulbi, Microphthalmia, Buphthalmos |
OMIM:221900 |
| Legius Syndrome |
|
Polydactyly, Macrocephaly, Clinodactyly of the 5th finger, Pulmonic stenosis, Paroxysmal atrial t... |
ORPHA:137605 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Umbilical her... |
OMIM:269700 |
| Aicardi Syndrome |
|
Microphthalmia, Polymicrogyria, Microcephaly, Pachygyria, Partial agenesis of the corpus callosum... |
ORPHA:50 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Short finger, Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Clinodactyly of the 5... |
OMIM:608670 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Dubowitz Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Single transverse palmar crease, Hypoplasia of th... |
OMIM:223370 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a... |
ORPHA:958 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyperplasia, Severe B lymphocyt... |
ORPHA:83617 |
| Pallister-Hall Syndrome |
|
Microphthalmia, Mesoaxial polydactyly, Oligodactyly, Broad thumb, Umbilical hernia, Polydactyly a... |
ORPHA:672 |
| Interatrial Communication |
|
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... |
ORPHA:1478 |
| Kbg Syndrome |
|
Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar crease, Ulna... |
OMIM:148050 |
| Fontaine Progeroid Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Deep palmar crease, Premature skin wrinkling, ... |
OMIM:612289 |
| Acrocallosal Syndrome |
|
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Postaxial hand polydactyly, Tape... |
OMIM:200990 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly |
OMIM:615824 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal metaphysis morphology, Macrocephaly, Abnormal metacarpal morphology, Hydrocephalus, Fing... |
ORPHA:2658 |
| Hardikar Syndrome |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholangitis, Intrahepatic bile duct dilatation, Portal inflamm... |
OMIM:301068 |
| Microphthalmia/Coloboma 12 |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
| Orofaciodigital Syndrome Type 2 |
|
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... |
ORPHA:2751 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Upper limb phocomelia, Br... |
ORPHA:989 |
| Fucosidosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:349 |
| Okamoto Syndrome |
|
Hypoplasia of the corpus callosum, Polydactyly, Syringomyelia, Redundant neck skin, Abnormally la... |
ORPHA:2729 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Macrocephaly, Tricuspid regurgitation, Camptodactyly, Broad thumb, Short phalanx of finger, Mesom... |
OMIM:616894 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Congenital hip dislocation, Short palm, Short thumb, Forearm reduction defects, T... |
OMIM:268400 |
| Prolactinoma |
|
Pallor, Hypotension |
ORPHA:2965 |
| Moebius Syndrome |
|
Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... |
ORPHA:570 |
| Microphthalmia/Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Bardet-Biedl Syndrome 20 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Postaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:619471 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Talipes equinovarus, Finger syndactyly, Hemiatrophy, Metatarsus adductus, Arachnodactyly, Camptod... |
ORPHA:2215 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Cubitus valgus, Hydrocephalus, Congenital hip dislocation, Syndactyly, Umbilical hernia |
OMIM:104350 |
| Blau Syndrome |
|
Abnormality of the liver, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:90340 |
| Monosomy 9P |
|
Bilateral single transverse palmar creases, Microphthalmia, Proximal placement of thumb, Postaxia... |
ORPHA:261112 |
| Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Optic nerve hypoplasia, 2-3 toe ... |
OMIM:620025 |
| Hartsfield Syndrome |
|
Semilobar holoprosencephaly, Alobar holoprosencephaly, Ectrodactyly, Microcephaly, Lobar holopros... |
OMIM:615465 |
| Cranioectodermal Dysplasia 2 |
|
Polydactyly, Macrocephaly, Rhizomelia, Hypertension, Postaxial hand polydactyly, Cutis laxa, Meso... |
OMIM:613610 |
| Townes-Brocks Syndrome 1 |
|
Metatarsal synostosis, Clinodactyly of the 5th toe, Triphalangeal thumb, Short metatarsal, Hydroc... |
OMIM:107480 |
| Carpenter Syndrome 2 |
|
Preaxial polydactyly, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Hitchhiker... |
OMIM:614976 |
| Vacterl/Vater Association |
|
Occipital encephalocele, Anencephaly, Finger syndactyly, Aplasia/Hypoplasia of the radius, Preaxi... |
ORPHA:887 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly |
ORPHA:465508 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia, Clinodactyly of the 5th finger, Aortic regurgitation, Single transverse palmar cr... |
OMIM:612474 |
| Sandhoff Disease |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
| Witteveen-Kolk Syndrome |
|
Microphthalmia, Radial deviation of finger, Proximal placement of thumb, Microcephaly, Arachnodac... |
OMIM:613406 |
| Smith-Lemli-Opitz Syndrome |
|
Rhizomelia, Proximal placement of thumb, Abnormal metacarpal morphology, Finger syndactyly, 2-3 t... |
ORPHA:818 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Cerebral atrophy, Polydactyly, Abnormal basal ganglia MRI signal intensity, Hypertrophic cardiomy... |
ORPHA:17 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... |
OMIM:261740 |
| Fryns Syndrome |
|
Rocker bottom foot, Microphthalmia, Proximal placement of thumb, Dandy-Walker malformation, Singl... |
OMIM:229850 |
| Traboulsi Syndrome |
|
Short finger, Microphthalmia, Cubitus valgus, Arachnodactyly, Broad hallux |
OMIM:601552 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Mogs-Cdg |
|
Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect |
ORPHA:79330 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... |
OMIM:620066 |
| Goodpasture Syndrome |
|
Pallor, Anemia |
OMIM:233450 |
| Crimean-Congo Hemorrhagic Fever |
|
Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Acute pancreatitis, Leukocytosis, Ascites,... |
ORPHA:99827 |
| Phace Association |
|
Optic nerve hypoplasia, Microphthalmia, Dandy-Walker malformation, Cerebellar hypoplasia |
OMIM:606519 |
| 8Q24.3 Microdeletion Syndrome |
|
Rocker bottom foot, Gastrointestinal hemorrhage, Optic nerve hypoplasia, Short 5th finger, Long t... |
ORPHA:508488 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcephaly, Microphthalmia |
OMIM:110100 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Tibial bowing, Microcephaly, Metaphyseal widening, Phthisis bulbi |
OMIM:259770 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Postnatal macrocephaly, Bilateral microphthalmos, Thin long bone diaphyses, Cortical thickening o... |
ORPHA:93325 |
| Sclerosteosis 1 |
|
Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular bones,... |
OMIM:269500 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Norrie Disease |
|
Buphthalmos, Microphthalmia, Hypoplasia of the iris |
OMIM:310600 |
| Au-Kline Syndrome |
|
Syringomyelia, Deep palmar crease, Clinodactyly of the 5th finger, Hypertension, Lipomyelomeningo... |
OMIM:616580 |
| Cat Eye Syndrome |
|
Pulmonic stenosis, Microphthalmia, Absent radius, Umbilical hernia |
OMIM:115470 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Optic nerve hypoplasia, Hypotension, Septo-optic dysplasia, Abnormal digit morpholog... |
ORPHA:95494 |
| Autosomal Recessive Robinow Syndrome |
|
Bilateral single transverse palmar creases, Macrocephaly, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:1507 |
| Oculoauricular Syndrome |
|
Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia |
OMIM:612109 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Rocker bottom foot, Dislocated radial head, Camptodactyly, Camptodactyly of toe, Arachnodactyly, ... |
OMIM:265000 |
| Tsh-Secreting Pituitary Adenoma |
|
Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Ventricular arr... |
ORPHA:91347 |
| Esophageal Atresia |
|
Pallor, Clinodactyly |
ORPHA:1199 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Microphthalmia, Genu valgum, Anophthalmia, Hydrocephalus, Branchial anom... |
OMIM:164210 |
| Primary Sclerosing Cholangitis |
|
Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal... |
ORPHA:171 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
ORPHA:308552 |
| Holoprosencephaly 1 |
|
Microphthalmia, Alobar holoprosencephaly, Microcephaly, Ethmocephaly, Agenesis of corpus callosum... |
OMIM:236100 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Spina bifida occulta, Finger syndactyly, Microcephaly, Camptodactyly of finger, Symphalangism aff... |
ORPHA:2990 |
| Saethre-Chotzen Syndrome |
|
Clinodactyly of the 5th finger, Buphthalmos, Absent first metatarsal, Abnormal pelvic girdle bone... |
OMIM:101400 |
| Fraser Syndrome 2 |
|
Microphthalmia, Cutaneous syndactyly |
OMIM:617666 |
| Yunis-Varon Syndrome |
|
Bilateral single transverse palmar creases, Redundant neck skin, Cardiomyopathy, Flat acetabular ... |
OMIM:216340 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Splenomegaly, Generalized lymphadenopathy |
OMIM:181000 |
| Orofaciodigital Syndrome Xiv |
|
Hypoplasia of the corpus callosum, Occipital encephalocele, Preaxial polydactyly, Cerebellar verm... |
OMIM:615948 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypoplasia of the ulna, Tetraphocomelia, Radial deviation of finger, Aplasia of the ulna, Abnorma... |
OMIM:268300 |
| Faciocardiomelic Syndrome |
|
Microcephaly, Polydactyly, Slender long bone, Hypoplastic pelvis |
OMIM:612731 |
| Stolerman Neurodevelopmental Syndrome |
|
Broad palm, Clinodactyly of the 5th finger, Syndactyly |
OMIM:618505 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Congenital hip dislocation, Syndactyly, Short t... |
OMIM:263750 |
| Yellow Fever |
|
Jaundice, Acute pancreatitis, Leukocytosis, Neutrophilia, Thrombocytopenia, Pancreatic hyperplasia |
ORPHA:99829 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Saethre-Chotzen Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Triphalangeal thumb, ... |
ORPHA:794 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypoplasia of the corpus callosum, Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Aort... |
ORPHA:268261 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Enlarged kidney |
OMIM:608836 |
| Helsmoortel-Van Der Aa Syndrome |
|
Polydactyly, Genu valgum, Clinodactyly of the 5th finger, Sandal gap, Prominent fingertip pads, S... |
OMIM:615873 |
| Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Dilated cardiomyopathy, Ventricular septal defect, Hepatomegaly |
OMIM:614921 |
| Simpson-Golabi-Behmel Syndrome |
|
Macrocephaly, Prolonged QT interval, Clinodactyly of the 5th finger, Short 2nd finger, Finger syn... |
ORPHA:373 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
| Sponastrime Dysplasia |
|
Neutropenia |
ORPHA:93357 |
| Mckusick-Kaufman Syndrome |
|
Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly,... |
ORPHA:2473 |
| Phace Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation, Microcephaly, Agenesis of corp... |
ORPHA:42775 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Periventricular leukomalacia, Preaxial polydactyly |
ORPHA:163681 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Splenomegaly |
OMIM:612132 |
| Liver Disease, Severe Congenital |
|
Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia, Splenomegaly, Umbilical hernia, Cardiome... |
OMIM:619991 |
| Neuroocular Syndrome |
|
Periventricular leukomalacia, Microphthalmia, Deep palmar crease, Clinodactyly of the 5th finger,... |
OMIM:619539 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Clinodactyly of the 5th finger, Relative macrocephaly, Syndactyly, Brachydactyly, Narrow joint sp... |
ORPHA:96182 |
| Prader-Willi Syndrome |
|
Acromicria, Radial deviation of finger, Genu valgum, Short foot, Narrow palm, Short palm, Syndact... |
OMIM:176270 |
| Cockayne Syndrome Type 3 |
|
Microphthalmia, Increased blood pressure, Progressive microcephaly, Cerebral white matter atrophy... |
ORPHA:90324 |
| Limb-Mammary Syndrome |
|
Clinodactyly of the 5th finger, Oligodactyly, Dry skin, Syndactyly, 3-4 finger cutaneous syndacty... |
ORPHA:69085 |
| Rapp-Hodgkin Syndrome |
|
Palmoplantar keratoderma, 2-3 toe cutaneous syndactyly, Dry skin, Syndactyly |
OMIM:129400 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Secondary microcephaly, Polydactyly, Syringomyelia, Deviation of the hallux, Broad distal phalanx... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Secondary microcephaly, Polydactyly, Syringomyelia, Deviation of the hallux, Broad distal phalanx... |
ORPHA:353277 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... |
ORPHA:980 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology |
ORPHA:228308 |
| Loeys-Dietz Syndrome 2 |
|
Dural ectasia, Hydrocephalus, Absent distal phalanges, Camptodactyly, Postaxial polydactyly, Arac... |
OMIM:610168 |
| Cockayne Syndrome |
|
Cerebral atrophy, Microphthalmia, Cerebral dysmyelination, Premature skin wrinkling, Progressive ... |
ORPHA:191 |
| Rabson-Mendenhall Syndrome |
|
Polydactyly, Cardiomyopathy, Dry skin |
ORPHA:769 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... |
ORPHA:95430 |
| Multiple Endocrine Neoplasia Type 2 |
|
Palpitations, Pallor, Hypertension associated with pheochromocytoma, Hypertensive crisis |
ORPHA:653 |
| Truncus Arteriosus |
|
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... |
ORPHA:3384 |
| Townes-Brocks Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Triphalangeal thumb, Absent toe, Broad thumb, Toe... |
ORPHA:857 |
| Hereditary Acrokeratotic Poikiloderma |
|
Skin ulcer, Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Camp... |
ORPHA:2907 |
| Hereditary Hemorrhagic Telangiectasia |
|
Cirrhosis, Hepatic arteriovenous malformation, Anemia, Cholelithiasis, Portal hypertension, Chole... |
ORPHA:774 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Ischemic stroke, Corneal neovascularization, Microphthalmia, Hydrocephalus, Cortical dysplasia, P... |
OMIM:175780 |
| Digeorge Syndrome |
|
Anemia, Cholelithiasis, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly, Abnormal thymus... |
OMIM:188400 |
| Monosomy 22 |
|
Clinodactyly of the 5th finger, Finger syndactyly, Single transverse palmar crease, Clubbing, Mic... |
ORPHA:96123 |
| 3Mc Syndrome 3 |
|
Preaxial polydactyly, Clinodactyly, Radioulnar synostosis |
OMIM:248340 |
| Cutis Marmorata Telangiectatica Congenita |
|
Purpura, Finger syndactyly, Abnormality of the upper limb, Short lower limbs, Telangiectasia of t... |
ORPHA:1556 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... |
ORPHA:1677 |
| Papillorenal Syndrome |
|
Microphthalmia, Hypertension |
OMIM:120330 |
| Renpenning Syndrome 1 |
|
Cerebral atrophy, Microphthalmia, Clinodactyly of the 5th finger, Camptodactyly, Microcephaly, Sy... |
OMIM:309500 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Hepatomegaly |
OMIM:618143 |
| Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Arrhythmia |
OMIM:153400 |
| Mosaic Trisomy 16 |
|
Large placenta, Single transverse palmar crease, Short forearm, Syndactyly, Short femoral neck, S... |
ORPHA:1708 |
| Exstrophy-Epispadias Complex |
|
Microcephaly, Hydrocephalus, Spina bifida |
ORPHA:322 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Branchial anomaly, Microcephaly, Posta... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Branchial anomaly, Microcephaly, Posta... |
ORPHA:352665 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Bilateral single transverse palmar creases, Toe syndactyly, Finger syndactyly, Palmoplantar hyper... |
ORPHA:3253 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly |
OMIM:615849 |
| Eec Syndrome |
|
Proximal placement of thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Split hand, Dry ... |
ORPHA:1896 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Short greater sciatic notch, Cardiomyopathy, Flared iliac wing, Pul... |
OMIM:312870 |
| Scalp-Ear-Nipple Syndrome |
|
Congestive heart failure, Clinodactyly of the 5th finger, Finger syndactyly, 2-3 toe syndactyly, ... |
OMIM:181270 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Short foot, Camptodactyly, Metatarsus adductus, Syndactyly, Broad... |
OMIM:227330 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Secondary microcephaly, Dysplastic corpus callosum, Macrocephaly, Polymicrogyria, Holoprosencepha... |
OMIM:618820 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Split hand |
ORPHA:1300 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Subcortical cerebral atrophy, Postaxial hand polydactyly, Split hand, Micromel... |
ORPHA:2753 |
| Glycogen Storage Disease Ii |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:232300 |
| Robinow Syndrome |
|
Macrocephaly, Mesomelic arm shortening, Pulmonic stenosis, Mesomelia, Bifid distal phalanx of the... |
ORPHA:97360 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Hip subluxation, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the ha... |
OMIM:150230 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal aortic valve morphology, Hepatomegaly, Abnormal mitral valve morphology, Splenomegaly, A... |
ORPHA:581 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Microphthalmia, Single transverse palmar crease, Branchial cyst, Pulmonary arterial hypertension,... |
OMIM:620186 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hypoplasia of the corpus callosum, Abnormal cortical gyration, Cerebellar vermis hypoplasia, Dand... |
ORPHA:480880 |
| Mckusick-Kaufman Syndrome |
|
Mesoaxial hand polydactyly, Postaxial hand polydactyly, Syndactyly, Congenital hip dislocation |
OMIM:236700 |
| Autosomal Dominant Robinow Syndrome |
|
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Micromelia, Coxa vara, Short pal... |
ORPHA:3107 |
| Fucosidosis |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:230000 |
| Lowe Oculocerebrorenal Syndrome |
|
Wrist swelling, Microphthalmia, Genu valgum, Camptodactyly of finger, Finger swelling, Hip disloc... |
OMIM:309000 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Cirrhosis, Hepatic arteriovenous malformation, Anemia, Polycythemia, Brain abscess |
OMIM:600376 |
| Alstrom Syndrome |
|
Polydactyly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:203800 |
| Peters-Plus Syndrome |
|
Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Microc... |
OMIM:261540 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, Syndactyly, Adducted th... |
ORPHA:261537 |
| Fraser Syndrome 3 |
|
Hydrocephalus, Cutaneous syndactyly, Short toe |
OMIM:617667 |
| Mullegama-Klein-Martinez Syndrome |
|
Microcephaly, Polydactyly, Clinodactyly of the 5th finger |
OMIM:301022 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... |
ORPHA:99125 |
| Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly |
OMIM:252500 |
| Loeys-Dietz Syndrome 1 |
|
Dural ectasia, Hydrocephalus, Postaxial hand polydactyly, Camptodactyly, Postaxial polydactyly, A... |
OMIM:609192 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal metaphysis morphology, Microphthalmia, Skin ulcer, Genu valgum, Umbilical hernia, Abnorm... |
ORPHA:534 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... |
OMIM:300967 |
| Tetraamelia Syndrome 1 |
|
Hydrocephalus, Microphthalmia, Hypoplastic pelvis |
OMIM:273395 |
| Lacrimoauriculodentodigital Syndrome |
|
Hypoplasia of the radius, Corneal neovascularization, Abnormal thumb morphology, Finger syndactyl... |
ORPHA:2363 |
| Holoprosencephaly 2 |
|
Semilobar holoprosencephaly, Microphthalmia, Alobar holoprosencephaly, Microcephaly, Holoprosence... |
OMIM:157170 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Microphthalmia, Hyphema, Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, Syndactyly, Ad... |
ORPHA:261552 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Juvenile Polyposis Syndrome |
|
Extrahepatic portal hypertension, Neoplasm of the pancreas, Anemia, Hepatic arteriovenous malform... |
ORPHA:2929 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Clinodactyly of the 5th f... |
OMIM:149730 |
| Treacher-Collins Syndrome |
|
Microphthalmia, Branchial fistula, Encephalocele |
ORPHA:861 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Frontotemporal cerebral atrophy, Aqueductal stenosis, Polydactyly, Bidirectional shunt, Aortic re... |
OMIM:619534 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Cardiomegaly, Ventricular septal defect, Hepatomegaly |
ORPHA:96191 |
| Coffin-Siris Syndrome 12 |
|
Hip subluxation, Macrocephaly, Hippocampal atrophy, Slender finger, Microcephaly, Broad thumb, Ra... |
OMIM:619325 |
| Ogden Syndrome |
|
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... |
OMIM:300855 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Short foot, Brachydactyly, Down-sloping shoulders |
ORPHA:1974 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short clavicles, Short long bone, Postaxial hand polydactyly, Postaxial polydactyly, Brachydactyl... |
OMIM:617088 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly |
OMIM:130650 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Macrocephaly, Sandal gap, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Toe... |
OMIM:620330 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Patent foramen ovale |
OMIM:620371 |
| Mowat-Wilson Syndrome |
|
Microphthalmia, Focal white matter lesions, Microcephaly, Pulmonic stenosis, Aortic valve stenosi... |
ORPHA:2152 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature, Syndactyly |
ORPHA:1521 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
ORPHA:365 |
| Specc1L-Related Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Umbilical hernia, Short toe, Brachydactyly, Ar... |
ORPHA:1519 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Polycythemia, Hepatic arteriovenous malformation, Anemia, Cirrhosis |
OMIM:187300 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... |
ORPHA:75565 |
| Kindler Epidermolysis Bullosa |
|
Short 4th metacarpal, Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short... |
ORPHA:2908 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Genu varum |
ORPHA:1969 |
| Proteus Syndrome |
|
Macrodactyly, Macrocephaly, Sirenomelia, Abnormality of the wrist, Clinodactyly of the 5th finger... |
ORPHA:744 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypertension, Cardiomyopathy, Postaxial polydactyly, Syndactyly, Brachydactyly... |
ORPHA:110 |
| Mowat-Wilson Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Aplasia/Hypoplasia of the cerebral white matte... |
OMIM:235730 |
| Aicardi-Goutières Syndrome |
|
Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy |
ORPHA:51 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Norrie Disease |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Microcephaly, Cerebral co... |
ORPHA:649 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Palmoplantar keratoderma, Finger syndactyly, Clinodactyly of the 5th finger |
ORPHA:1071 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiome... |
ORPHA:116 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Pulmonic stenosis, Te... |
ORPHA:904 |
| Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Pachygyria |
ORPHA:2136 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:256040 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Cardiomegaly, Pericardial effusion, Ventricular hypertrophy, Myocardial calcification |
ORPHA:51608 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
